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Wyszukujesz frazę ""Fragile X Mental Retardation Protein"" wg kryterium: Temat


Tytuł :
(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders.
Autorzy :
Zhao X; Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 25; Vol. 22 (17). Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Trinucleotide Repeat Expansion*
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
Animals ; Fragile X Mental Retardation Protein/chemistry ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/metabolism ; Fragile X Syndrome/pathology ; Humans
Czasopismo naukowe
Tytuł :
The fragile X mental retardation protein promotes adjustments in cocaine self-administration that preserve reinforcement level.
Autorzy :
Huebschman JL; Department of Neuroscience and Experimental Therapeutics, Texas A&M University Health Science Center, Bryan, Texas, USA.; Texas A&M Institute for Neuroscience, Texas A&M University, College Station, Texas, USA.
Davis MC; Department of Neuroscience and Experimental Therapeutics, Texas A&M University Health Science Center, Bryan, Texas, USA.
Tovar Pensa C; Department of Neuroscience and Experimental Therapeutics, Texas A&M University Health Science Center, Bryan, Texas, USA.
Guo Y; Department of Neuroscience and Experimental Therapeutics, Texas A&M University Health Science Center, Bryan, Texas, USA.
Smith LN; Department of Neuroscience and Experimental Therapeutics, Texas A&M University Health Science Center, Bryan, Texas, USA.; Texas A&M Institute for Neuroscience, Texas A&M University, College Station, Texas, USA.
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Źródło :
The European journal of neuroscience [Eur J Neurosci] 2021 Aug; Vol. 54 (3), pp. 4920-4933. Date of Electronic Publication: 2021 Jun 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Cocaine*/administration & dosage
Fragile X Mental Retardation Protein*/genetics
Neuronal Plasticity*
Animals ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Reinforcement, Psychology
Czasopismo naukowe
Tytuł :
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.
Autorzy :
Erbs E; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark. Electronic address: .
Fenger-Grøn J; Department of Paediatrics, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.
Jacobsen CM; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark.
Lildballe DL; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark.
Rasmussen M; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Aug; Vol. 64 (8), pp. 104244. Date of Electronic Publication: 2021 May 20.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
5' Untranslated Regions ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/pathology ; Humans ; Infant ; Male ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł :
Hyperexcitability and Loss of Feedforward Inhibition Contribute to Aberrant Plasticity in the Fmr1 KO Amygdala.
Autorzy :
Svalina MN; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Medical Scientist Training Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Guthman EM; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Cea-Del Rio CA; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Centro de Investigación Biomédica y Aplicada, Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile, Santiago 9160000, Chile.
Kushner JK; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Baca SM; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Restrepo D; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
Huntsman MM; Neuroscience Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045 .; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Department of Pediatrics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.
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Źródło :
ENeuro [eNeuro] 2021 May 11; Vol. 8 (3). Date of Electronic Publication: 2021 May 11 (Print Publication: 2021).
Typ publikacji :
Journal Article
MeSH Terms :
Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Fragile X Syndrome*/genetics
Amygdala/metabolism ; Animals ; Disease Models, Animal ; Mice ; Mice, Knockout ; Synapses/metabolism ; Synaptic Transmission
Czasopismo naukowe
Tytuł :
The RNA Binding Proteins YTHDC1 and FMRP Regulate the Nuclear Export of N -Methyladenosine-Modified Hepatitis B Virus Transcripts and Affect the Viral Life Cycle.
Autorzy :
Kim GW; Division of Infectious Diseases and Global Public Health, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Imam H; Division of Infectious Diseases and Global Public Health, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Siddiqui A; Division of Infectious Diseases and Global Public Health, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
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Źródło :
Journal of virology [J Virol] 2021 Jun 10; Vol. 95 (13), pp. e0009721. Date of Electronic Publication: 2021 Jun 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Active Transport, Cell Nucleus/*genetics
Adenosine/*analogs & derivatives
DNA, Viral/*chemistry
Fragile X Mental Retardation Protein/*metabolism
Hepatitis B virus/*genetics
Nerve Tissue Proteins/*metabolism
RNA Splicing Factors/*metabolism
Adenosine/chemistry ; Carrier Proteins/metabolism ; Cell Line, Tumor ; Cell Nucleus/metabolism ; DNA Replication/genetics ; Fragile X Mental Retardation Protein/genetics ; Gene Expression Regulation, Viral/genetics ; Humans ; Nerve Tissue Proteins/genetics ; RNA Splicing Factors/genetics ; RNA Stability/genetics ; Transcription, Genetic/genetics ; Virus Replication/genetics
Czasopismo naukowe
Tytuł :
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.
Autorzy :
Domniz N; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Levavi LR; The Genetic Institute, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Berkenstadt M; The Genetic Institute, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pras E; The Genetic Institute, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Cohen Y; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Raanani H; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Goldstein DB; Genetic Institute at Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Department of Obstetrics and Gynecology, Lis Maternity Hospital at Tel Aviv Sourasky Medical Center, Aviv-Yafo, Israel.
Yaron Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetic Institute at Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Elizur S; IVF Unit, Sheba Medical Center Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ben-Shachar S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. .; Clalit Research Institute, Ramat Gan, Israel. .; Schneider Children's Medical Center, Petah Tikva, Israel. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1023-1027. Date of Electronic Publication: 2021 Jan 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Mental Retardation Protein*/genetics
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/genetics
Alleles ; Female ; Heterozygote ; Humans ; Israel/epidemiology ; Mutation ; Trinucleotide Repeat Expansion/genetics
Czasopismo naukowe
Tytuł :
Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene.
Autorzy :
Nolin SL; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
Napoli E; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.
Flores A; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.; Medical Sciences Campus, Department of Biochemistry, University of Puerto Rico, PR00936 San Juan, Puerto Rico.
Hagerman RJ; Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.
Giulivi C; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA.; The MIND Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 May 30; Vol. 22 (11). Date of Electronic Publication: 2021 May 30.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Autistic Disorder/*genetics
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
Mitochondria/*genetics
Serine/*deficiency
5' Untranslated Regions ; Adult ; Amniocentesis ; Amniotic Fluid/chemistry ; Autistic Disorder/diagnosis ; Autistic Disorder/metabolism ; Autistic Disorder/pathology ; Citric Acid Cycle/genetics ; Female ; Fetus ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/metabolism ; Fragile X Syndrome/pathology ; Gene Expression ; Genetic Complementation Test ; Heterozygote ; Humans ; Male ; Metabolomics/methods ; Mitochondria/metabolism ; Mitochondria/pathology ; Pregnancy ; Primary Cell Culture ; Proteomics/methods ; Serine/biosynthesis ; Trinucleotide Repeats
Czasopismo naukowe
Tytuł :
Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs.
Autorzy :
Brighi C; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.; Department of Physiology and Pharmacology, Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy.
Salaris F; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.; Department of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy.
Soloperto A; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.
Cordella F; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.; Department of Physiology and Pharmacology, Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy.
Ghirga S; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.; Department of Physics, Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy.
de Turris V; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.
Rosito M; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.
Porceddu PF; D3 Validation Research Line, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy.
D'Antoni C; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy.; Department of Physiology and Pharmacology, Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy.
Reggiani A; D3 Validation Research Line, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy.
Rosa A; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy. .; Department of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy. .
Di Angelantonio S; Center for Life Nano- & Neuro-Science, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161, Rome, Italy. .; Department of Physiology and Pharmacology, Sapienza University of Rome, P.le A. Moro 5, 00185, Rome, Italy. .
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Źródło :
Cell death & disease [Cell Death Dis] 2021 May 15; Vol. 12 (5), pp. 498. Date of Electronic Publication: 2021 May 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain/*diagnostic imaging
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
Cell Differentiation ; Fragile X Mental Retardation Protein/metabolism ; Humans ; Induced Pluripotent Stem Cells/metabolism
Czasopismo naukowe
Tytuł :
FMRP regulates STAT3 mRNA localization to cellular protrusions and local translation to promote hepatocellular carcinoma metastasis.
Autorzy :
Shen Z; Key Laboratory of Laboratory Medicine, Ministry of Education of China, and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China. .; Cancer Metastasis Alert and Prevention Center, Fujian Provincial Key Laboratory of Cancer Metastasis Chemoprevention and Chemotherapy, National & Local Joint Biomedical Engineering Research Center on Photodynamic Technologies, State Key Laboratory of Photocatalysis on Energy and Environment, College of Chemistry, Fuzhou University, Fuzhou, China. .
Liu B; Research Center for Molecular Oncology and Functional Nucleic Acids, School of Laboratory Medicine, Xinxiang Medical University, Xinxiang, Henan, China.
Wu B; Key Laboratory of Laboratory Medicine, Ministry of Education of China, and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Zhou H; Key Laboratory of Laboratory Medicine, Ministry of Education of China, and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Wang X; Research Center for Molecular Oncology and Functional Nucleic Acids, School of Laboratory Medicine, Xinxiang Medical University, Xinxiang, Henan, China.
Cao J; Research Center for Molecular Oncology and Functional Nucleic Acids, School of Laboratory Medicine, Xinxiang Medical University, Xinxiang, Henan, China.
Jiang M; Key Laboratory of Laboratory Medicine, Ministry of Education of China, and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Zhou Y; Key Laboratory of Laboratory Medicine, Ministry of Education of China, and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Guo F; Key Laboratory of Laboratory Medicine, Ministry of Education of China, and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Xue C; Cancer Metastasis Alert and Prevention Center, Fujian Provincial Key Laboratory of Cancer Metastasis Chemoprevention and Chemotherapy, National & Local Joint Biomedical Engineering Research Center on Photodynamic Technologies, State Key Laboratory of Photocatalysis on Energy and Environment, College of Chemistry, Fuzhou University, Fuzhou, China.
Wu ZS; Cancer Metastasis Alert and Prevention Center, Fujian Provincial Key Laboratory of Cancer Metastasis Chemoprevention and Chemotherapy, National & Local Joint Biomedical Engineering Research Center on Photodynamic Technologies, State Key Laboratory of Photocatalysis on Energy and Environment, College of Chemistry, Fuzhou University, Fuzhou, China. .
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Źródło :
Communications biology [Commun Biol] 2021 May 10; Vol. 4 (1), pp. 540. Date of Electronic Publication: 2021 May 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation, Neoplastic*
Biomarkers, Tumor/*metabolism
Carcinoma, Hepatocellular/*pathology
Fragile X Mental Retardation Protein/*metabolism
Liver Neoplasms/*pathology
STAT3 Transcription Factor/*metabolism
Animals ; Apoptosis ; Biomarkers, Tumor/genetics ; Carcinoma, Hepatocellular/genetics ; Carcinoma, Hepatocellular/metabolism ; Cell Movement ; Cell Proliferation ; Female ; Fragile X Mental Retardation Protein/genetics ; Humans ; Liver Neoplasms/genetics ; Liver Neoplasms/metabolism ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Protein Biosynthesis ; STAT3 Transcription Factor/genetics ; Tumor Cells, Cultured ; Xenograft Model Antitumor Assays
Czasopismo naukowe
Tytuł :
Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder.
Autorzy :
Joo Y; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Benavides DR; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Mar 10; Vol. 22 (6). Date of Electronic Publication: 2021 Mar 10.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/metabolism
Autism Spectrum Disorder*/pathology
Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Protein Biosynthesis*
RNA Processing, Post-Transcriptional*
Synapses*/genetics
Synapses*/metabolism
Synapses*/pathology
Animals ; Humans
Czasopismo naukowe
Tytuł :
Neuron-Specific FMRP Roles in Experience-Dependent Remodeling of Olfactory Brain Innervation during an Early-Life Critical Period.
Autorzy :
Golovin RM; Vanderbilt Brain Institute.
Vest J; Department of Biological Sciences.
Broadie K; Vanderbilt Brain Institute .; Department of Biological Sciences.; Department of Cell and Developmental Biology.; Department of Pharmacology, Vanderbilt University and Medical Center, Vanderbilt University, Nashville, 37235, Tennessee.
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Źródło :
The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2021 Feb 10; Vol. 41 (6), pp. 1218-1241. Date of Electronic Publication: 2021 Jan 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Critical Period, Psychological*
Fragile X Mental Retardation Protein/*metabolism
Fragile X Syndrome/*metabolism
Neuronal Plasticity/*physiology
Neurons/*physiology
Olfactory Cortex/*growth & development
Olfactory Cortex/*metabolism
Animals ; Animals, Genetically Modified ; Drosophila ; Female ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/genetics ; Male ; Neuronal Plasticity/drug effects ; Neurons/chemistry ; Neurons/drug effects ; Odorants ; Olfactory Bulb/chemistry ; Olfactory Bulb/metabolism ; Olfactory Cortex/chemistry ; Olfactory Receptor Neurons/chemistry ; Olfactory Receptor Neurons/metabolism ; Optogenetics/methods
Czasopismo naukowe
Tytuł :
Novel FMRP interaction networks linked to cellular stress.
Autorzy :
Taha MS; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.; Research on Children with Special Needs Department, Medical Research Branch, National Research Centre, Cairo, Egypt.
Haghighi F; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
Stefanski A; Molecular Proteomics Laboratory, Heinrich Heine-University, Düsseldorf, Germany.
Nakhaei-Rad S; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
Kazemein Jasemi NS; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
Al Kabbani MA; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
Görg B; Clinic of Gastroenterology, Hepatology and Infectious Diseases, Medical Faculty of the Heinrich Heine-University, Düsseldorf, Germany.
Fujii M; Division of Virology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Lang PA; Department of Molecular Medicine II, Medical Faculty, Heinrich Heine-University, Düsseldorf, Germany.
Häussinger D; Clinic of Gastroenterology, Hepatology and Infectious Diseases, Medical Faculty of the Heinrich Heine-University, Düsseldorf, Germany.
Piekorz RP; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
Stühler K; Molecular Proteomics Laboratory, Heinrich Heine-University, Düsseldorf, Germany.
Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
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Źródło :
The FEBS journal [FEBS J] 2021 Feb; Vol. 288 (3), pp. 837-860. Date of Electronic Publication: 2020 Jun 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Protein Interaction Maps*
Stress, Physiological*
Carrier Proteins/*metabolism
Fragile X Mental Retardation Protein/*metabolism
Carrier Proteins/genetics ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Cell Line, Tumor ; Cells, Cultured ; Chromatography, Liquid/methods ; Fragile X Mental Retardation Protein/genetics ; HEK293 Cells ; HeLa Cells ; Hep G2 Cells ; Humans ; MCF-7 Cells ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Protein Binding ; RNA/genetics ; RNA/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism ; Tandem Mass Spectrometry/methods
Czasopismo naukowe
Tytuł :
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.
Autorzy :
Prieto M; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Folci A; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Poupon G; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Schiavi S; RomaTre University, Dept. Science, Rome, Italy.
Buzzelli V; RomaTre University, Dept. Science, Rome, Italy.
Pronot M; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
François U; University of Bordeaux, CNRS, IINS, Bordeaux, France.
Pousinha P; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Lattuada N; Università degli Studi di Milano, Dept. of Medical Biotechnology and Translational Medicine, Milan, Italy.
Abelanet S; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Castagnola S; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Chafai M; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Khayachi A; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Gwizdek C; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Brau F; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Deval E; Université Côte d'Azur, CNRS, IPMC, Valbonne, France.
Francolini M; Università degli Studi di Milano, Dept. of Medical Biotechnology and Translational Medicine, Milan, Italy.
Bardoni B; Université Côte d'Azur, Inserm, CNRS, IPMC, Valbonne, France.
Humeau Y; University of Bordeaux, CNRS, IINS, Bordeaux, France.
Trezza V; RomaTre University, Dept. Science, Rome, Italy.
Martin S; Université Côte d'Azur, Inserm, CNRS, IPMC, Valbonne, France. .
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Źródło :
Nature communications [Nat Commun] 2021 Mar 10; Vol. 12 (1), pp. 1557. Date of Electronic Publication: 2021 Mar 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cognitive Dysfunction/*genetics
Cognitive Dysfunction/*physiopathology
Fragile X Mental Retardation Protein/*metabolism
Mutation, Missense/*physiology
Receptors, Glutamate/*metabolism
Animals ; Biotinylation ; Brain/metabolism ; Brain/physiopathology ; Cells, Cultured ; Cognitive Dysfunction/metabolism ; Female ; Fragile X Mental Retardation Protein/genetics ; Hippocampus/metabolism ; Hippocampus/physiopathology ; Humans ; Immunoblotting ; Long-Term Potentiation/genetics ; Long-Term Potentiation/physiology ; Male ; Mice ; Mutation, Missense/genetics ; Patch-Clamp Techniques ; Receptors, Glutamate/genetics
Czasopismo naukowe
Tytuł :
Response Inhibition Deficits in Women with the FMR1 Premutation are Associated with Age and Fall Risk.
Autorzy :
Moser C; Communication Sciences and Disorders, University of South Carolina, 1705 College Street, Columbia, South Carolina, 29208, USA.
Schmitt L; Communication Sciences and Disorders, University of South Carolina, 1705 College Street, Columbia, South Carolina, 29208, USA.
Schmidt J; Department of Psychology, University of Central Florida, 4111 Pictor Lane, Orlando, FL 32816, Orlando, Florida 32816, USA.
Fairchild A; Department of Psychology, University of South Carolina, 1512 Pendleton Street, Columbia, South Carolina, 29208, USA.
Klusek J; Communication Sciences and Disorders, University of South Carolina, 1705 College Street, Columbia, South Carolina, 29208, USA. Electronic address: .
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Źródło :
Brain and cognition [Brain Cogn] 2021 Mar; Vol. 148, pp. 105675. Date of Electronic Publication: 2020 Dec 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Fragile X Mental Retardation Protein*/genetics
Fragile X Syndrome*
Aged ; Ataxia ; Female ; Heterozygote ; Humans ; Tremor
Czasopismo naukowe
Tytuł :
Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats.
Autorzy :
Derbis M; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, Poznan, Poland.
Kul E; Department of Genetics and Molecular Neurobiology, Institute of Biology, Otto von Guericke University, Magdeburg, Germany.
Niewiadomska D; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, Poznan, Poland.
Sekrecki M; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, Poznan, Poland.
Piasecka A; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, Poznan, Poland.
Taylor K; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, Poznan, Poland.
Hukema RK; Department of Clinical Genetics, Erasmus MC, CA, Rotterdam, The Netherlands.; Department of Health Care Studies, Rotterdam University of Applied Sciences, HR, Rotterdam, The Netherlands.
Stork O; Department of Genetics and Molecular Neurobiology, Institute of Biology, Otto von Guericke University, Magdeburg, Germany.
Sobczak K; Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, Poznan, Poland. .
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Źródło :
Nature communications [Nat Commun] 2021 Feb 24; Vol. 12 (1), pp. 1265. Date of Electronic Publication: 2021 Feb 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Ataxia/*metabolism
Fragile X Mental Retardation Protein/*metabolism
Fragile X Syndrome/*metabolism
Oligonucleotides, Antisense/*metabolism
Tremor/*metabolism
Trinucleotide Repeat Expansion/*genetics
Trinucleotide Repeat Expansion/*physiology
Alternative Splicing/genetics ; Alternative Splicing/physiology ; Animals ; Ataxia/genetics ; Exons/genetics ; Female ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/genetics ; Male ; Mice ; Mice, Transgenic ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Oligonucleotides, Antisense/genetics ; Tremor/genetics
SCR Disease Name :
Fragile X Tremor Ataxia Syndrome
Czasopismo naukowe
Tytuł :
Neuronal fragile X mental retardation protein activates glial insulin receptor mediated PDF-Tri neuron developmental clearance.
Autorzy :
Vita DJ; Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.
Meier CJ; Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.
Broadie K; Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA. .; Kennedy Center for Research on Human Development, Nashville, TN, USA. .; Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN, USA. .
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Źródło :
Nature communications [Nat Commun] 2021 Feb 19; Vol. 12 (1), pp. 1160. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Drosophila Proteins/*metabolism
Fragile X Mental Retardation Protein/*metabolism
Neuroglia/*metabolism
Neurons/*physiology
Neuropeptides/*metabolism
Receptor, Insulin/*metabolism
Animals ; Antigens, CD ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Central Nervous System/metabolism ; Drosophila/metabolism ; Drosophila Proteins/genetics ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/genetics ; Neuropeptides/genetics ; Signal Transduction
Czasopismo naukowe
Tytuł :
A study on the role of FMR1 CGG trinucleotide repeats in Jordanian poor ovarian responders.
Autorzy :
Batiha O; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan. Electronic address: .
Shaaban ST; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
Al-Smadi M; Reproductive Endocrinology and IVF Unit, King Hussein Medical Center, Amman, Jordan.
Jarun Y; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
Maswadeh A; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
Alahmad NA; Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
Al-Talib MM; Department of Statistics, Yarmouk University, Irbid, Jordan.
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Źródło :
Gene [Gene] 2021 Jan 30; Vol. 767, pp. 145174. Date of Electronic Publication: 2020 Sep 30.
Typ publikacji :
Journal Article
MeSH Terms :
Fragile X Mental Retardation Protein/*genetics
Ovarian Reserve/*genetics
Trinucleotide Repeats/*genetics
Adult ; Alleles ; Anti-Mullerian Hormone/genetics ; Ataxia ; Female ; Follicle Stimulating Hormone/genetics ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome ; Gene Frequency/genetics ; Humans ; Jordan/epidemiology ; Ovarian Reserve/physiology ; Ovary/metabolism ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/physiopathology ; Promoter Regions, Genetic/genetics ; Tremor ; Trinucleotide Repeat Expansion
SCR Disease Name :
Fragile X Tremor Ataxia Syndrome
Czasopismo naukowe
Tytuł :
Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA.
Autorzy :
Wang Z; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Maluenda J; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Giraut L; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Vieille T; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Lefevre A; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Salthouse D; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Radou G; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Moulinas R; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Astete S; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
D'Avezac P; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Smith G; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
André C; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Allemand JF; Laboratoire de physique de L'École normale supérieure de Paris, CNRS, ENS, Université PSL, Sorbonne Université, Université de Paris, Paris, 75005, France.; IBENS, Département de biologie, École normale supérieure, CNRS, INSERM, PSL Research University, 75005, Paris, France.
Bensimon D; Laboratoire de physique de L'École normale supérieure de Paris, CNRS, ENS, Université PSL, Sorbonne Université, Université de Paris, Paris, 75005, France.; IBENS, Département de biologie, École normale supérieure, CNRS, INSERM, PSL Research University, 75005, Paris, France.; Department of Chemistry and Biochemistry, UCLA, 607 Charles E Young Drive East, Los Angeles, 90095, USA.
Croquette V; Laboratoire de physique de L'École normale supérieure de Paris, CNRS, ENS, Université PSL, Sorbonne Université, Université de Paris, Paris, 75005, France.; IBENS, Département de biologie, École normale supérieure, CNRS, INSERM, PSL Research University, 75005, Paris, France.; ESPCI Paris, PSL University, 10 rue Vauquelin, 75005, Paris, France.
Ouellet J; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France.
Hamilton G; Depixus SAS, 3/5 Impasse Reille, 75014, Paris, France. .
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Źródło :
Communications biology [Commun Biol] 2021 Jan 29; Vol. 4 (1), pp. 128. Date of Electronic Publication: 2021 Jan 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Base Pairing*
Epigenesis, Genetic*
Genetic Variation*
Single Molecule Imaging*/instrumentation
DNA/*genetics
Fragile X Mental Retardation Protein/*genetics
Fragile X Syndrome/*genetics
RNA/*genetics
5' Untranslated Regions ; CRISPR-Cas Systems ; DNA/metabolism ; DNA Methylation ; DNA, Bacterial/genetics ; DNA, Bacterial/metabolism ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/metabolism ; Humans ; Magnets ; RNA/metabolism ; Trinucleotide Repeats
Czasopismo naukowe
Tytuł :
miR-142 downregulation alleviates rat PTSD-like behaviors, reduces the level of inflammatory cytokine expression and apoptosis in hippocampus, and upregulates the expression of fragile X mental retardation protein.
Autorzy :
Nie PY; Department of Anatomy, College of Basic Medical Sciences, China Medical University, Shenyang, China.
Tong L; Department of Anatomy, College of Basic Medical Sciences, China Medical University, Shenyang, China.
Li MD; Department of 1st Clinical Medicine, China Medical University, Shenyang, China.
Fu CH; Department of Anatomy, College of Basic Medical Sciences, China Medical University, Shenyang, China.
Peng JB; Department of Anatomy, College of Basic Medical Sciences, China Medical University, Shenyang, China.
Ji LL; Department of Anatomy, College of Basic Medical Sciences, China Medical University, Shenyang, China. .
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Źródło :
Journal of neuroinflammation [J Neuroinflammation] 2021 Jan 06; Vol. 18 (1), pp. 17. Date of Electronic Publication: 2021 Jan 06.
Typ publikacji :
Journal Article
MeSH Terms :
Apoptosis/*physiology
Cytokines/*biosynthesis
Fragile X Mental Retardation Protein/*biosynthesis
Hippocampus/*metabolism
MicroRNAs/*biosynthesis
Stress Disorders, Post-Traumatic/*metabolism
Animals ; Cells, Cultured ; Cytokines/antagonists & inhibitors ; Cytokines/genetics ; Down-Regulation/physiology ; Fragile X Mental Retardation Protein/genetics ; Gene Expression ; Inflammation/genetics ; Inflammation/metabolism ; Inflammation/prevention & control ; Male ; MicroRNAs/antagonists & inhibitors ; MicroRNAs/genetics ; PC12 Cells ; Rats ; Rats, Sprague-Dawley ; Stress Disorders, Post-Traumatic/genetics ; Stress Disorders, Post-Traumatic/prevention & control ; Up-Regulation/physiology
Czasopismo naukowe
Tytuł :
Depletion of Mitochondrial Components from Extracellular Vesicles Secreted from Astrocytes in a Mouse Model of Fragile X Syndrome.
Autorzy :
Ha BG; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.
Heo JY; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.
Jang YJ; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.
Park TS; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.
Choi JY; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.
Jang WY; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.
Jeong SJ; Research Group of Developmental Disorders and Rare Diseases, Korea Brain Research Institute (KBRI), Daegu 41062, Korea.; Department of Brain and Cognitive Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jan 02; Vol. 22 (1). Date of Electronic Publication: 2021 Jan 02.
Typ publikacji :
Journal Article
MeSH Terms :
Astrocytes/*metabolism
Extracellular Vesicles/*metabolism
Fragile X Mental Retardation Protein/*metabolism
Fragile X Syndrome/*metabolism
Mitochondria/*metabolism
Animals ; Cells, Cultured ; Cerebral Cortex/metabolism ; Disease Models, Animal ; Extracellular Vesicles/genetics ; Extracellular Vesicles/ultrastructure ; Fragile X Mental Retardation Protein/genetics ; Immunohistochemistry ; Male ; Membrane Potential, Mitochondrial/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Microscopy, Electron, Transmission ; Mitochondria/genetics
Czasopismo naukowe

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