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Tytuł:
Endosomal traffic and glutamate synapse activity are increased in VPS35 D620N mutant knock-in mouse neurons, and resistant to LRRK2 kinase inhibition.
Autorzy:
Kadgien CA; Graduate Program in Neuroscience and Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada.
Kamesh A; Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada.
Milnerwood AJ; Graduate Program in Neuroscience and Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, Canada. .; Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada. .
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Źródło:
Molecular brain [Mol Brain] 2021 Sep 16; Vol. 14 (1), pp. 143. Date of Electronic Publication: 2021 Sep 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Endosomes/*physiology
Glutamic Acid/*physiology
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/*antagonists & inhibitors
Parkinson Disease/*genetics
Vesicular Transport Proteins/*genetics
Animals ; Cells, Cultured ; Dendrites/metabolism ; Gain of Function Mutation ; Gene Knock-In Techniques ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/physiology ; Mice ; Mice, Inbred C57BL ; Miniature Postsynaptic Potentials/physiology ; Nerve Tissue Proteins/metabolism ; Patch-Clamp Techniques ; Protein Binding ; Protein Interaction Mapping ; Receptors, AMPA/metabolism ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Synapses/metabolism ; Vesicular Transport Proteins/physiology ; rab GTP-Binding Proteins/metabolism
SCR Disease Name:
Parkinson Disease, Familial, Type 1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC Cardiomyopathy.
Autorzy:
Kim M; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.
Lu L; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.; School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, China.
Dvornikov AV; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cellular and Molecular Medicine, The University of Arizona, Tucson, AZ 85721, USA.
Ma X; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.
Ding Y; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.
Zhu P; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.
Olson TM; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55901, USA.
Lin X; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.
Xu X; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55901, USA.; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55901, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 May 23; Vol. 22 (11). Date of Electronic Publication: 2021 May 23.
Typ publikacji:
Journal Article
MeSH Terms:
Gain of Function Mutation*
Mutation, Missense*
Point Mutation*
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*physiology
Cardiomyopathy, Dilated/*genetics
Monomeric GTP-Binding Proteins/*genetics
TOR Serine-Threonine Kinases/*antagonists & inhibitors
Active Transport, Cell Nucleus ; Amino Acid Substitution ; Animals ; Autophagy ; Base Sequence ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/biosynthesis ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics ; Cardiomyopathy, Dilated/therapy ; Cells, Cultured ; Gene Knock-In Techniques ; Gene Knockout Techniques ; Heart Ventricles/cytology ; Humans ; Mice ; Monomeric GTP-Binding Proteins/physiology ; Myocytes, Cardiac/metabolism ; Phenotype ; Rats, Wistar ; Recombinant Proteins/metabolism ; Signal Transduction ; Transcription Activator-Like Effector Nucleases ; Zebrafish ; Zebrafish Proteins/deficiency ; Zebrafish Proteins/genetics ; Zebrafish Proteins/physiology ; Rats
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
Autorzy:
Uehara T; Center for Medical Genetics, Keio University Hospital, Tokyo, Japan.
Abe K; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Oginuma M; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Ishitani S; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Yoshihashi H; Department of Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University Hospital, Tokyo, Japan.
Ishitani T; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan. .; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2020 Oct 16; Vol. 10 (1), pp. 17575. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Cyclin-Dependent Kinase 8/*genetics
Neurodevelopmental Disorders/*genetics
Abnormalities, Multiple/genetics ; Animals ; Child ; Craniofacial Abnormalities/genetics ; Cyclin-Dependent Kinase 8/antagonists & inhibitors ; Cyclin-Dependent Kinase 8/deficiency ; Cyclin-Dependent Kinase 8/physiology ; Cyclin-Dependent Kinases/physiology ; Embryo, Nonmammalian/abnormalities ; Embryo, Nonmammalian/enzymology ; Female ; Heart Defects, Congenital/genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Intellectual Disability/genetics ; Loss of Function Mutation ; Male ; Protein Domains ; Protein Kinase Inhibitors/pharmacology ; Quinazolines/pharmacology ; RNA, Messenger/biosynthesis ; RNA, Messenger/genetics ; Zebrafish/embryology ; Zebrafish Proteins/antagonists & inhibitors ; Zebrafish Proteins/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Autorzy:
Bernard E; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, 8 Avenue Rockefeller, 69373 Lyon CEDEX 08, France.
Pegat A; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
Svahn J; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
Bouhour F; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.
Leblanc P; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, 8 Avenue Rockefeller, 69373 Lyon CEDEX 08, France.
Millecamps S; Institut du Cerveau, ICM, Inserm U1127, CNRS UMR7225, Sorbonne Université, Hôpital Pitié-Salpêtrière, 75646 Paris, France.
Thobois S; Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, France.; Faculté de Médecine Lyon Sud Charles Merieux, Université Claude Bernard Lyon 1, 69373 Lyon, France.; CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, 69675 Bron, France.
Guissart C; Laboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nimes, Motoneuron Disease: Pathophysiology and Therapy, INM, University Montpellier, 30029 Nîmes CEDEX 9, France.
Lumbroso S; Laboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nimes, Motoneuron Disease: Pathophysiology and Therapy, INM, University Montpellier, 30029 Nîmes CEDEX 9, France.
Mouzat K; Laboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nimes, Motoneuron Disease: Pathophysiology and Therapy, INM, University Montpellier, 30029 Nîmes CEDEX 9, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 16; Vol. 21 (18). Date of Electronic Publication: 2020 Sep 16.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Mutation, Missense*
Point Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Superoxide Dismutase-1/*genetics
Adult ; Aged ; Amyotrophic Lateral Sclerosis/enzymology ; Female ; Genetic Testing ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Symptom Assessment
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Disease-related cellular protein networks differentially affected under different EGFR mutations in lung adenocarcinoma.
Autorzy:
Nishimura T; Department of Translational Medicine Informatics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 216-8511, Japan. .
Nakamura H; Department of Translational Medicine Informatics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 216-8511, Japan.; Department of Chest Surgery, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 216-8511, Japan.
Yachie A; The Systems Biology Institute, Tokyo, 141-0022, Japan.
Hase T; The Systems Biology Institute, Tokyo, 141-0022, Japan.
Fujii K; Department of Translational Medicine Informatics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 216-8511, Japan.
Koizumi H; Department of Pathology, St. Marianna University Hospital, Kawasaki, Kanagawa, 216-8511, Japan.
Naruki S; Department of Pathology, St. Marianna University Hospital, Kawasaki, Kanagawa, 216-8511, Japan.
Takagi M; Department of Pathology, St. Marianna University Hospital, Kawasaki, Kanagawa, 216-8511, Japan.
Matsuoka Y; The Systems Biology Institute, Tokyo, 141-0022, Japan.
Furuya N; Division of Respiratory Medicine, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 216-8511, Japan.
Kato H; Tokyo Medical University, Tokyo, 160-0023, Japan.; International University of Health and Welfare, Tokyo, 107-8402, Japan.
Saji H; Department of Chest Surgery, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 216-8511, Japan.
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Źródło:
Scientific reports [Sci Rep] 2020 Jul 02; Vol. 10 (1), pp. 10881. Date of Electronic Publication: 2020 Jul 02.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation, Neoplastic*
Genes, erbB-1*
Mutation, Missense*
Point Mutation*
Adenocarcinoma of Lung/*genetics
Lung Neoplasms/*genetics
Neoplasm Proteins/*genetics
Adenocarcinoma of Lung/metabolism ; Adult ; Aged ; Aged, 80 and over ; Datasets as Topic ; ErbB Receptors/genetics ; Female ; Gene Regulatory Networks ; Humans ; Lung Neoplasms/metabolism ; Male ; Middle Aged ; Neoplasm Proteins/metabolism ; Proteome ; Sequence Deletion ; Transcriptome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Point mutagenesis in mouse reveals contrasting pathogenetic effects between MEN2B- and Hirschsprung disease-associated missense mutations of the RET gene.
Autorzy:
Nakatani T; Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.; Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Iwasaki M; Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
Yamamichi A; Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
Yoshioka Y; Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
Uesaka T; Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
Bitoh Y; Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Maeda K; Department of Surgery, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Fukumoto T; Division of Hepato-Biliary-Pancreatic surgery, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
Takemoto T; Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan.
Enomoto H; Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
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Źródło:
Development, growth & differentiation [Dev Growth Differ] 2020 May; Vol. 62 (4), pp. 214-222. Date of Electronic Publication: 2020 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Point Mutation*
Hirschsprung Disease/*genetics
Multiple Endocrine Neoplasia Type 2b/*genetics
Proto-Oncogene Proteins c-ret/*genetics
Animals ; Female ; Mice ; Mice, Inbred C57BL ; Mice, Inbred ICR
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Nicotinamide attenuates the decrease in dendritic spine density in hippocampal primary neurons from 5xFAD mice, an Alzheimer's disease animal model.
Autorzy:
Kim H; Department of Pharmacology, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea.; Department of Biomedical Sciences, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea.
Kim B; Department of Clinical Pharmacology and Therapeutics, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea.; Kidney Research Institute, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea.
Kim HS; Department of Pharmacology, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea. .; Department of Biomedical Sciences, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea. .; Seoul National University College of Medicine, Bundang Hospital, Bundang-Gu, Sungnam, Republic of Korea. .; Department of Pharmacology and Biomedical Sciences, Neuroscience Research Institute, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea. .
Cho JY; Department of Clinical Pharmacology and Therapeutics, College of Medicine, Seoul National University, 103 Daehakro, Jongro-gu, Seoul, Republic of Korea. .; Department of Clinical Pharmacology and Therapeutics, Seoul National University College of Medicine and Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. .
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Źródło:
Molecular brain [Mol Brain] 2020 Feb 07; Vol. 13 (1), pp. 17. Date of Electronic Publication: 2020 Feb 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Alzheimer Disease/*drug therapy
Alzheimer Disease/*metabolism
Dendritic Spines/*drug effects
Hippocampus/*drug effects
Niacinamide/*therapeutic use
Adenosine Monophosphate/metabolism ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Amyloid beta-Peptides/analysis ; Amyloid beta-Peptides/genetics ; Animals ; Cells, Cultured ; Disease Models, Animal ; Disease Progression ; Female ; Hippocampus/metabolism ; Hippocampus/pathology ; Lysophosphatidylcholines/metabolism ; Lysophospholipids/metabolism ; Male ; Metabolomics ; Mice, Transgenic ; Neurons/drug effects ; Neurons/metabolism ; Neurons/pathology ; Niacinamide/pharmacology ; Peptide Fragments/analysis ; Presenilin-1/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
ALS-linked TDP-43 knock-in mice exhibit splicing deregulation without neurodegeneration.
Autorzy:
Watanabe S; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan.; Department of Neuroscience and Pathobiology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Oiwa K; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan.; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya University, Nagoya, Aichi, 466-8550, Japan.
Murata Y; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan.
Komine O; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan.; Department of Neuroscience and Pathobiology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Sobue A; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan.; Department of Neuroscience and Pathobiology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Endo F; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan.; Department of Neuroscience and Pathobiology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
Takahashi E; Support Unit for Animal Resources Development, Research Resource Division, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
Yamanaka K; Department of Neuroscience and Pathobiology, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, 464-8601, Japan. .; Department of Neuroscience and Pathobiology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan. .
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Źródło:
Molecular brain [Mol Brain] 2020 Jan 20; Vol. 13 (1), pp. 8. Date of Electronic Publication: 2020 Jan 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Alternative Splicing/*physiology
DNA-Binding Proteins/*genetics
Alternative Splicing/genetics ; Amyotrophic Lateral Sclerosis/genetics ; Animals ; Base Sequence ; Brain/metabolism ; CRISPR-Cas Systems ; DNA-Binding Proteins/physiology ; Exons/genetics ; Gene Knock-In Techniques ; Humans ; Mice ; RNA, Messenger/metabolism ; Spinal Cord/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.
Autorzy:
Bal E; Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.
Lim AC; Inflammation Research and Therapeutic Discovery, Amgen Inc., Seattle, WA, USA.
Shen M; Inflammation Research and Therapeutic Discovery, Amgen Inc., Seattle, WA, USA.
Douangpanya J; Inflammation Research and Therapeutic Discovery, Amgen Inc., Seattle, WA, USA.
Madrange M; Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.
Gazah R; Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.
Tauber M; Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.
Beghdadi W; Clinical Research Unit, APHP Saint-Louis Hospital, Paris, France.
Casanova JL; Rockefeller Branch, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.; Necker Branch, Laboratory of Human Genetics of Infectious Diseases, Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.; Pediatric Hematology-Immunology-Rheumatology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.
Bourrat E; Sorbonne Paris Cité, Paris Diderot University, Paris, France.; Department of Pediatrics, APHP Robert Debré Hospital, Paris, France.
Bachelez H; Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.; Sorbonne Paris Cité, Paris Diderot University, Paris, France.; Department of Dermatology, APHP, Saint-Louis Hospital, Paris, France.
Towne JE; Inflammation Research and Therapeutic Discovery, Amgen Inc., Seattle, WA, USA.; Moved to Janssen Research & Development LLC, San Diego, CA, USA.
Smahi A; Sorbonne Paris Cité, IMAGINE Institute, Necker Hospital, Enfants-Malades, UMR 1163, Paris-Descartes University, Paris, France.
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Źródło:
Experimental dermatology [Exp Dermatol] 2019 Oct; Vol. 28 (10), pp. 1114-1117. Date of Electronic Publication: 2017 Oct 26.
Typ publikacji:
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Loss of Function Mutation*
Mutation, Missense*
Point Mutation*
Interleukins/*deficiency
Skin Diseases, Vesiculobullous/*genetics
Amino Acid Substitution ; C-Reactive Protein/analysis ; Child ; Consanguinity ; Female ; HEK293 Cells ; Humans ; Infant ; Interleukins/genetics ; Interleukins/physiology ; Male ; Pedigree ; Phenotype ; Skin Diseases, Vesiculobullous/pathology ; Syndrome
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
Autorzy:
Smaldone G; IRCCS SDN, Via Gianturco 113, 80143, Napoli, Italy.
Balasco N; Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Pirone L; Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Caruso D; Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.; Università degli Studi della Campania 'Luigi Vanvitelli', Viale Abramo Lincoln 5, 81100, Caserta, Italy.
Di Gaetano S; Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Pedone EM; Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy.
Vitagliano L; Institute of Biostructures and Bioimaging, CNR, Via Mezzocannone 16, 80134, Napoli, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2019 Jul 19; Vol. 9 (1), pp. 10519. Date of Electronic Publication: 2019 Jul 19.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Point Mutation*
Abnormalities, Multiple/*genetics
Co-Repressor Proteins/*genetics
Ear, External/*abnormalities
Hypospadias/*genetics
Muscle Hypotonia/*genetics
Nipples/*abnormalities
Scalp/*abnormalities
Amino Acid Substitution ; Benzothiazoles/metabolism ; Co-Repressor Proteins/metabolism ; Genes, Dominant ; Humans ; Models, Molecular ; Protein Conformation ; Protein Denaturation ; Protein Domains ; Protein Stability ; Recombinant Proteins/metabolism ; Transcription Factor AP-2/metabolism
SCR Disease Name:
Scalp ear nipple syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations.
Autorzy:
Zhu YB; Department of Traditional Chinese Medicine, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, P.R. China.
Luo JW; Provincial Clinical Medical College, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China.
Jiang F; Pharmacogenomics Research Center, Inje University College of Medicine, Busan 614‑715, Republic of Korea.
Liu G; Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, Fujian 350001, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2018 May; Vol. 17 (5), pp. 7073-7080. Date of Electronic Publication: 2018 Mar 16.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Point Mutation*
Calcium Channels, L-Type/*genetics
Connectin/*genetics
Sick Sinus Syndrome/*genetics
Adult ; Aged ; Amino Acid Sequence ; Bradycardia/genetics ; Calcium Channels, L-Type/chemistry ; Connectin/chemistry ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Male ; Middle Aged ; Pedigree ; Sequence Alignment
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification and detection of a novel point mutation in the Chitin Synthase gene of Culex pipiens associated with diflubenzuron resistance.
Autorzy:
Fotakis EA; Department of Crop Science, Pesticide Science Lab, Agricultural University of Athens, Athens, Greece.; Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology Hellas, Heraklion, Crete, Greece.
Mastrantonio V; Department of Environmental Biology, Sapienza University of Rome, Rome, Italy.
Grigoraki L; Vector Biology Dept, Liverpool School of Tropical Medicine, Liverpool, United Kingdom.
Porretta D; Department of Environmental Biology, Sapienza University of Rome, Rome, Italy.
Puggioli A; Medical and Veterinary Entomology Dept., Centro Agricoltura Ambiente 'G. Nicoli', Bologna, Italy.
Chaskopoulou A; European Biological Control Laboratory, USDA-ARS, Thessaloniki, Greece.
Osório H; National Institute of Health Doctor Ricardo Jorge, Centro de Estudos de Vetores e Doenças Infeciosas Doutor Francisco Cambournac, Avenida da Liberdade, Águas de Moura, Portugal.
Weill M; Institut des Sciences de l'Evolution (CNRS-Université de Montpellier-IRD-EPHE), Montpellier, France.
Bellini R; Medical and Veterinary Entomology Dept., Centro Agricoltura Ambiente 'G. Nicoli', Bologna, Italy.
Urbanelli S; Department of Environmental Biology, Sapienza University of Rome, Rome, Italy.
Vontas J; Department of Crop Science, Pesticide Science Lab, Agricultural University of Athens, Athens, Greece.; Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology Hellas, Heraklion, Crete, Greece.
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Źródło:
PLoS neglected tropical diseases [PLoS Negl Trop Dis] 2020 May 01; Vol. 14 (5), pp. e0008284. Date of Electronic Publication: 2020 May 01 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Insecticide Resistance*
Point Mutation*
Chitin Synthase/*genetics
Culex/*enzymology
Diflubenzuron/*pharmacology
Insect Proteins/*genetics
Insecticides/*pharmacology
Animals ; Culex/drug effects ; Culex/genetics ; Mediterranean Region ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Construction of green fluorescence protein mutant to monitor STT3B-dependent N-glycosylation.
Autorzy:
Kitajima T; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
Xue W; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
Liu YS; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
Wang CD; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
Liu SS; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
Fujita M; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
Gao XD; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
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Źródło:
The FEBS journal [FEBS J] 2018 Mar; Vol. 285 (5), pp. 915-928. Date of Electronic Publication: 2018 Jan 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Hexosyltransferases/*chemistry
Membrane Proteins/*chemistry
Amino Acid Substitution ; Base Sequence ; Flow Cytometry ; Fluorescence ; Genes, Reporter ; Glycosylation ; Green Fluorescent Proteins/genetics ; HEK293 Cells ; Hexosyltransferases/genetics ; Hexosyltransferases/metabolism ; Humans ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Protein Isoforms/chemistry ; Protein Processing, Post-Translational ; Recombinant Fusion Proteins/chemistry ; Recombinant Fusion Proteins/metabolism ; Substrate Specificity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
LRRK2 p.Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy.
Autorzy:
Lee K; Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA.
Nguyen KD; Biogen, Cambridge, MA, USA.
Sun C; Biogen, Cambridge, MA, USA.
Liu M; Biogen, Cambridge, MA, USA.
Zafar F; Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA.
Saetern J; Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA.
Flierl A; Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA.
Tetrud JW; Stanford Neuroscience Health Center, Stanford School of Medicine, Stanford, CA, USA.
Langston JW; Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA.
Dickson D; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Schüle B; Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA.
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Źródło:
Journal of Parkinson's disease [J Parkinsons Dis] 2018; Vol. 8 (1), pp. 93-100.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Mutation, Missense*
Point Mutation*
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/*genetics
Multiple System Atrophy/*genetics
Brain/pathology ; Brain Chemistry ; Female ; Humans ; Middle Aged ; Multiple System Atrophy/pathology ; Neuroglia/chemistry ; Neuroglia/ultrastructure ; Neurons/chemistry ; Neurons/ultrastructure ; Pedigree ; Sequence Analysis, DNA ; alpha-Synuclein/genetics ; tau Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An R1632C variant in the SCN5A gene causing Brugada syndrome.
Autorzy:
García-Molina E; Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
Sabater-Molina M; Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
Muñoz C; Department of Cardiology, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
Ruiz-Espejo F; Department of Clinical Analysis, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
Gimeno JR; Department of Cardiology, Virgen de la Arrixaca University Hospital, El Palmar, 30120 Murcia, Spain.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2016 Jun; Vol. 13 (6), pp. 4677-80. Date of Electronic Publication: 2016 Apr 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Point Mutation*
Brugada Syndrome/*genetics
NAV1.5 Voltage-Gated Sodium Channel/*genetics
Adult ; Brugada Syndrome/pathology ; DNA Mutational Analysis ; Electrocardiography ; Exons ; Humans ; Male ; Myocardium/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
First Observation of Hemoglobin G-Waimanalo and Hemoglobin Fontainebleau Cases in the Turkish Population.
Autorzy:
Canatan D; Antalya Genetic Diagnostic Center, Antalya, Turkey. E-mail: .
Bilgen T
Çiftçi V
Yazıcı G
Delibaş S
Keser İ
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Źródło:
Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2016 Mar 05; Vol. 33 (1), pp. 71-2.
Typ publikacji:
Letter
MeSH Terms:
Mutation, Missense*
Point Mutation*
Hemoglobins, Abnormal/*genetics
alpha-Globins/*genetics
alpha-Thalassemia/*genetics
Adult ; Asymptomatic Diseases ; Chromatography, High Pressure Liquid ; Codon/genetics ; Female ; Humans ; Turkey/epidemiology ; alpha-Thalassemia/epidemiology
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
Autorzy:
Hsiao CT; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.
Tsai PC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.; Brain Research Center, National Yang-Ming University, Taipei, Taiwan, ROC.
Lin CC; Department of Neurology, School of Medicine, National Cheng Kung University Hospital, Tainan, Taiwan, ROC.
Liu YT; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.
Huang YH; Institute of Biomedical Informatics, National Yang-Ming University School of Medicine, Taipei, Taiwan.; Center for Systems and Synthetic Biology, National Yang-Ming University, Taipei, Taiwan.
Liao YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.
Huang HW; Department of Neurology, School of Medicine, National Cheng Kung University Hospital, Tainan, Taiwan, ROC.
Lin KP; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.
Soong BW; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.; Brain Research Center, National Yang-Ming University, Taipei, Taiwan, ROC.
Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.; Brain Research Center, National Yang-Ming University, Taipei, Taiwan, ROC.
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Źródło:
PloS one [PLoS One] 2016 Jan 27; Vol. 11 (1), pp. e0147677. Date of Electronic Publication: 2016 Jan 27 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Charcot-Marie-Tooth Disease/*genetics
GTP-Binding Protein gamma Subunits/*genetics
Muscular Atrophy, Spinal/*genetics
Adult ; Amino Acid Sequence ; Animals ; Charcot-Marie-Tooth Disease/epidemiology ; Child ; Child, Preschool ; Cohort Studies ; DNA Mutational Analysis ; Female ; GTP-Binding Protein gamma Subunits/chemistry ; HEK293 Cells ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Muscular Atrophy, Spinal/epidemiology ; Pedigree ; Sequence Alignment ; Taiwan/epidemiology ; Young Adult
SCR Disease Name:
Neuronopathy, Distal Hereditary Motor, Type V
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication.
Autorzy:
Balcı YI; Pamukkale University Faculty of Medicine, Department of Pediatric Hematology, Denizli, Turkey Phone: +90 532 547 71 79 E-mail: .
Özgürler Akpınar F
Polat A
Kenar F
Tesi B
Greenwood T
Yalçın N
Koçyiğit A
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Źródło:
Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2015 Dec; Vol. 32 (4), pp. 355-8. Date of Electronic Publication: 2015 Sep 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Point Mutation*
Aspergillosis/*etiology
Lymphohistiocytosis, Hemophagocytic/*genetics
Membrane Proteins/*genetics
Nasal Septal Perforation/*etiology
Opportunistic Infections/*etiology
Stomatitis/*etiology
Amino Acid Substitution ; Amphotericin B/therapeutic use ; Aspergillosis/drug therapy ; Aspergillosis/surgery ; Bone Marrow Transplantation ; Combined Modality Therapy ; Cyclosporine/therapeutic use ; Debridement ; Dexamethasone/therapeutic use ; Drug Therapy, Combination ; Etoposide/adverse effects ; Etoposide/therapeutic use ; Female ; Humans ; Immunocompromised Host ; Infant ; Lymphohistiocytosis, Hemophagocytic/therapy ; Methotrexate/therapeutic use ; Nasal Septal Perforation/microbiology ; Nasal Septal Perforation/surgery ; Opportunistic Infections/drug therapy ; Opportunistic Infections/surgery ; Palate, Soft/microbiology ; Stomatitis/drug therapy ; Stomatitis/surgery
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia.
Autorzy:
Niziolek PJ; Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.; Weldon School of Biomedical Engineering, Purdue University, West Lafayette, Indiana, United States of America.
Bullock W; Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.
Warman ML; Department of Orthopaedic Surgery, Children's Hospital, Boston, Massachusetts, United States of America.; Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Massachusetts, United States of America.
Robling AG; Department of Anatomy & Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.; Department of Biomedical Engineering, Indiana University-Purdue University at Indianapolis (IUPUI), Indianapolis, Indiana, United States of America.; Richard L. Roudebush VA Medical Center, Indianapolis, Indiana, United States of America.
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Źródło:
PloS one [PLoS One] 2015 Nov 10; Vol. 10 (11), pp. e0140775. Date of Electronic Publication: 2015 Nov 10 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Bone Density/*physiology
Bone Diseases, Metabolic/*prevention & control
Low Density Lipoprotein Receptor-Related Protein-5/*physiology
Animals ; Bone Density/genetics ; Bone Diseases, Metabolic/etiology ; Bone Diseases, Metabolic/pathology ; Botulinum Toxins/toxicity ; Disease Models, Animal ; Estrogens/deficiency ; Estrogens/physiology ; Female ; Femur/pathology ; Gene Knock-In Techniques ; Humans ; Immobilization/adverse effects ; Low Density Lipoprotein Receptor-Related Protein-5/genetics ; Mechanotransduction, Cellular/genetics ; Mechanotransduction, Cellular/physiology ; Mice ; Osteoporosis, Postmenopausal/pathology ; Osteoporosis, Postmenopausal/prevention & control ; Ovariectomy/adverse effects ; Paralysis/chemically induced ; Paralysis/complications ; Paralysis/pathology ; Stress, Mechanical ; Weight-Bearing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells.
Autorzy:
Wren MC; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Zhao J; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Liu CC; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Murray ME; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Atagi Y; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Davis MD; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Fu Y; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Okano HJ; Division of Regenerative Medicine, Jikei University School of Medicine, 3-25-8 Nishishinbashi, Minato-ku, Tokyo, 105-8461, Japan. .
Ogaki K; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Strongosky AJ; Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Tacik P; Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Rademakers R; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Ross OA; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Dickson DW; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Wszolek ZK; Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Kanekiyo T; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
Bu G; Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. .
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Źródło:
Molecular neurodegeneration [Mol Neurodegener] 2015 Sep 15; Vol. 10, pp. 46. Date of Electronic Publication: 2015 Sep 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Protein Transport*
Frontotemporal Dementia/*genetics
Induced Pluripotent Stem Cells/*metabolism
Transport Vesicles/*physiology
tau Proteins/*genetics
Binding Sites/genetics ; Cells, Cultured ; Embryoid Bodies ; Endosomes/physiology ; Exons/genetics ; Exosomes/physiology ; Female ; Frontal Lobe/metabolism ; Frontal Lobe/pathology ; Frontotemporal Dementia/metabolism ; Frontotemporal Dementia/pathology ; Gene Expression Regulation ; Humans ; Induced Pluripotent Stem Cells/cytology ; Lysosomes/physiology ; Membrane Proteins/biosynthesis ; Membrane Proteins/genetics ; Middle Aged ; Nerve Tissue Proteins/biosynthesis ; Nerve Tissue Proteins/genetics ; Occipital Lobe/metabolism ; Occipital Lobe/pathology ; RNA, Messenger/biosynthesis ; RNA, Messenger/genetics ; Temporal Lobe/metabolism ; Temporal Lobe/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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