Temat: "Niemann Pick disease" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Autorzy:: Tirelli C; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Rondinone O; Medical Genetics Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Italia M; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Mira S; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Belmonte LA; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
De Grassi M; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Guido G; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Maggioni S; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Mondoni M; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Miozzo MR; Medical Genetics Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Centanni S; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2024 Feb 11; Vol. 14 (2). Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Niemann-Pick Disease, Type A*/genetics
Niemann-Pick Disease, Type A*/metabolism
Niemann-Pick Disease, Type A*/therapy
Niemann-Pick Disease, Type B*/genetics
Niemann-Pick Disease, Type B*/therapy
Niemann-Pick Diseases*/genetics
Niemann-Pick Diseases*/therapy
Lung Diseases*/genetics
Lung Diseases*/therapy
Humans ; Mutation ; Rare Diseases ; Lung/metabolism

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Skocz do pozycji: 2.

Tytuł:: Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Autorzy:: Tao C; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China.
Zhao M; Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Zhang X; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China.
Hao J; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Huo Q; Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Sun J; Department of Ultrasound Diagnosis of Gynecology and Obstetrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Xing J; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China.
Zhang Y; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China.
Zhao J; Hebei Provincial Center for Clinical Laboratories, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China. zhaojh_.
Huang H; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China. .; Pokaż więcej
Źródło:: BMC infectious diseases [BMC Infect Dis] 2024 Jan 30; Vol. 24 (1), pp. 145. Date of Electronic Publication: 2024 Jan 30.
Typ publikacji:: Review; Case Reports; Journal Article
MeSH Terms:: Niemann-Pick Disease, Type C*/diagnosis
Niemann-Pick Disease, Type C*/genetics
Child ; Humans ; Male ; Carrier Proteins/genetics ; Mutation ; Niemann-Pick C1 Protein/genetics ; Prenatal Diagnosis

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Skocz do pozycji: 3.

Tytuł:: Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo.
Autorzy:: MacLeod CM; Department of Biology, Providence College, Providence, RI, United States of America.
Yousufzai FAK; Department of Biological & Biomedical Sciences, Rowan University, Glassboro, NJ, United States of America.
Spencer LT; Department of Biology, Providence College, Providence, RI, United States of America.
Kim S; Department of Biological & Biomedical Sciences, Rowan University, Glassboro, NJ, United States of America.
Rivera-Rosario LA; Department of Biology, Providence College, Providence, RI, United States of America.
Barrera ZD; Department of Biological & Biomedical Sciences, Rowan University, Glassboro, NJ, United States of America.
Walsh L; Department of Biology, Providence College, Providence, RI, United States of America.
Krummenacher C; Department of Biological & Biomedical Sciences, Rowan University, Glassboro, NJ, United States of America.
Carone B; Department of Biological & Biomedical Sciences, Rowan University, Glassboro, NJ, United States of America.
Soto I; Department of Biology, Providence College, Providence, RI, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2023 Nov 30; Vol. 18 (11), pp. e0294312. Date of Electronic Publication: 2023 Nov 30 (Print Publication: 2023).
Typ publikacji:: Journal Article
MeSH Terms:: Mitochondria*/metabolism
Niemann-Pick Disease, Type C*/drug therapy
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/metabolism
Trehalose*/pharmacology
Animals ; Humans ; Mice ; Cholesterol/metabolism ; Fibroblasts/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Lysosomes/metabolism ; Niemann-Pick C1 Protein ; Purkinje Cells/pathology

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Skocz do pozycji: 4.

Tytuł:: Impact of miR-29c-3p in the Nucleus Accumbens on Methamphetamine-Induced Behavioral Sensitization and Neuroplasticity-Related Proteins.
Autorzy:: Su H; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.
Zhu L; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.
Su L; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.
Li M; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.
Wang R; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.
Zhu J; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.
Chen Y; Department of Immunology and Pathogenic Biology, College of Basic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.
Chen T; College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.; The Key Laboratory of Health Ministry for Forensic Science, Xi'an Jiaotong University, Xi'an 710061, China.; National Biosafety Evidence Foundation, Bio-Evidence Sciences Academy, Western China Science and Technology Innovation Harbor, Xi'an Jiaotong University, Xi'an 710115, China.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 11; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 11.
Typ publikacji:: Journal Article
MeSH Terms:: Amphetamine-Related Disorders*
Methamphetamine*/pharmacology
MicroRNAs*/genetics
Niemann-Pick Disease, Type C*
Animals ; Mice ; Nucleus Accumbens ; Neuronal Plasticity/genetics ; RNA, Messenger ; Receptors, G-Protein-Coupled

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Skocz do pozycji: 5.

Tytuł:: Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Autorzy:: Wasserstein MP; Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA. .
Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Barbato A; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy.
Gallagher RC; Department of Pediatrics, The University of California San Francisco, San Francisco, CA, USA.
Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Med Genet Serv & DR Brasil, HCPA, INAGEMP, DASA, and Casa Dos Raros, UFRGS, Porto Alegre, Brazil.
Guelbert NB; Reina Fabiola University Clinic, Córdoba, Argentina.
Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany.
Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan.
Lidove O; Department of Internal Medicine, La Croix St Simon Hospital, Paris, France.
Mabe P; Clinica Santa Maria, Santiago, Chile.
Mengel E; Clinical Science for LSD, SpinCS, Hochheim, Germany.
Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy.
Senates E; Istanbul Medeniyet University, Istanbul, Turkey.
Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.
Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Thurberg BL; Sanofi, Cambridge, MA, USA.
Yarramaneni A; Sanofi, Bridgewater, NJ, USA.
Armstrong NM; Sanofi, Cambridge, MA, USA.
Kim Y; Sanofi, Paris, France.
Kumar M; Sanofi, Bridgewater, NJ, USA.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 02; Vol. 18 (1), pp. 378. Date of Electronic Publication: 2023 Dec 02.
Typ publikacji:: Journal Article
MeSH Terms:: Niemann-Pick Disease, Type A*
Niemann-Pick Diseases*
Adult ; Humans ; Sphingomyelin Phosphodiesterase/therapeutic use ; Recombinant Proteins/therapeutic use

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Skocz do pozycji: 6.

Tytuł:: Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models.
Autorzy:: Miyoshi K; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Hishinuma E; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-Ku, Sendai 980-8573, Japan.; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-Ku, Sendai 980-8573, Japan.
Matsukawa N; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-Ku, Sendai 980-8573, Japan.
Shirasago Y; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, 1-23-1, Toyama, Shinjuku-ku, Tokyo 162-8640, Japan.
Watanabe M; Graduate School of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Sato T; Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Sato Y; Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Kumondai M; Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Kikuchi M; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Graduate School of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Koshiba S; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-Ku, Sendai 980-8573, Japan.; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-Ku, Sendai 980-8573, Japan.
Fukasawa M; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, 1-23-1, Toyama, Shinjuku-ku, Tokyo 162-8640, Japan.
Maekawa M; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-Ku, Sendai 980-8573, Japan.; Graduate School of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.
Mano N; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Graduate School of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 27; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 27.
Typ publikacji:: Journal Article
MeSH Terms:: Niemann-Pick Disease, Type C*/metabolism
Humans ; Proteomics/methods ; Proteome ; Hepatocytes/metabolism

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Skocz do pozycji: 7.

Tytuł:: Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment.
Autorzy:: Yamada Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.; Department of Pharmacy, University of Miyazaki Hospital, Miyazaki, Japan.
Fukaura-Nishizawa M; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Nishiyama A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Ishii A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Kawata T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Shirakawa A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Tanaka M; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Kondo Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Takeo T; Division of Reproductive Engineering, Center for Animal Resources and Development (CARD), Kumamoto University, Kumamoto, Japan.
Nakagata N; Division of Reproductive Biotechnology and Innovation, Center for Animal Resources and Development (CARD), Kumamoto University, Kumamoto, Japan.
Miwa T; Department of Otolaryngology, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.
Takeda H; Department of Otolaryngology-Head and Neck Surgery, Graduate School of Medicine, Kumamoto University, Kumamoto, Japan.
Orita Y; Department of Otolaryngology-Head and Neck Surgery, Graduate School of Medicine, Kumamoto University, Kumamoto, Japan.
Motoyama K; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Higashi T; Priority Organization for Innovation and Excellence, Kumamoto University, Kumamoto, Japan.
Arima H; Laboratory of Evidence-Based Pharmacotherapy, Daiichi University of Pharmacy, Fukuoka, Japan.
Seki T; Department of Pharmacology, Faculty of Pharmaceutical Sciences, Himeji Dokkyo University, Hyogo, Japan.
Kurauchi Y; Department of Chemico-Pharmacological Sciences, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Katsuki H; Department of Chemico-Pharmacological Sciences, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.
Higaki K; Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
Minami K; Department of Pharmacy, University of Miyazaki Hospital, Miyazaki, Japan.
Yoshikawa N; Department of Pharmacy, University of Miyazaki Hospital, Miyazaki, Japan.
Ikeda R; Department of Pharmacy, University of Miyazaki Hospital, Miyazaki, Japan.
Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
Irie T; Department of Pharmaceutical Packaging Technology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Ishitsuka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan.; Pokaż więcej
Źródło:: Clinical and translational medicine [Clin Transl Med] 2023 Aug; Vol. 13 (8), pp. e1350.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cyclodextrins*/pharmacology
Niemann-Pick Disease, Type C*/drug therapy
Ototoxicity*
Humans ; Molecular Docking Simulation ; Cholesterol

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Skocz do pozycji: 8.

Tytuł:: Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders.
Autorzy:: Morin A; Department of Neurology, Rouen University Hospital, University of Rouen, 76000, Rouen, France. .; Department of Psychiatry, Rouvray Hospital, University of Rouen, 76000, Rouen, France. .
Carle G; Saint-Exupery Private Clinic, Toulouse, France.
Ponchel A; GHU Paris Psychiatrie & Neurosciences, Paris, France.
Fernández-Eulate G; Neuro-Metabolism Unit, Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, APHP, Paris, France.; Institut Necker-Enfants Malades, INSERM U1151, BioSPC (ED562), Université Paris Cité, Paris, France.
Nadjar Y; Neuro-Metabolism Unit, Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, APHP, Paris, France.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 22; Vol. 18 (1), pp. 298. Date of Electronic Publication: 2023 Sep 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Niemann-Pick Disease, Type C*
Psychotic Disorders*
Humans ; Adult ; Quality of Life ; Retrospective Studies ; Frontal Lobe

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Skocz do pozycji: 9.

Tytuł:: Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Autorzy:: Gomez-Mariano G; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
Perez-Luz S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
Ramos-Del Saz S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
Matamala N; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
Hernandez-SanMiguel E; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
Fernandez-Prieto M; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.
Gil-Martin S; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.; CIBER de Enfermedades Raras, CIBERER U758, 28029 Madrid, Spain.
Justo I; General and Digestive Surgery Department, Hospital 12 de Octubre, 28041 Madrid, Spain.
Marcacuzco A; General and Digestive Surgery Department, Hospital 12 de Octubre, 28041 Madrid, Spain.
Martinez-Delgado B; Molecular Genetics and Genetic Diagnostic Units, Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), 28220 Madrid, Spain.; CIBER de Enfermedades Raras, CIBERER U758, 28029 Madrid, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 10; Vol. 24 (16). Date of Electronic Publication: 2023 Aug 10.
Typ publikacji:: Journal Article
MeSH Terms:: Niemann-Pick Disease, Type A*/genetics
Niemann-Pick Diseases*
Humans ; Sphingomyelins ; Liver ; Gene Expression

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Skocz do pozycji: 10.

Tytuł:: Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Autorzy:: Freihuber C; Department of Paediatric Neurology, Reference Centre for Lysosomal Diseases, Armand Trousseau-La Roche Guyon Hospital and Hospital-University I2-D2 Federation, Sorbonne-Université, Paris, France.
Dahmani-Rabehi B; Department of Paediatrics, Jean Verdier University Hospital, Bondy, France.
Brassier A; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France.
Broué P; Department of Paediatric Hepatology and Metabolic Disorders, Reference Centre for Inborn Errors of Metabolism and Genetic Cholestasis, Children's Hospital Toulouse University Hospitals, Toulouse, France.
Cances C; Department of Paediatric Neurology, Purpan University Hospital, Toulouse, France.
Chabrol B; Department of Paediatric Neurometabolism, La Timone University Hospital, Marseille, France.
Eyer D; Department of Paediatrics, Haguenau Hospital, Hagueneau, France.
Labarthe F; CRMR ToTeM, Department of Pediatrics, Hôpital Clocheville, CHRU Tours, and Laboratoire N2C, Inserm U1069, Université François Rabelais de Tours, 37 000, Tours, France.
Latour P; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France.
Levade T; INSERM U1037 (Cancer Research Centre of Toulouse), Université Paul Sabatier, Toulouse, France.; Department of Clinical Biochemistry, Toulouse University Hospital, Toulouse, France.
Pichard S; Department of Metabolic Disorders, Reference Center for Inborn Errors of Metabolism, Necker-Enfants Malades University Hospital, Paris, France.
Sevin C; Department of Paediatric Neurology, Kremlin-Bicêtre University Hospital, Paris, France.
Vanier MT; Laboratoire Gillet-Mérieux, Lyon-East University Hospital, Hospices Civils de Lyon, Lyon, France.; INSERM U820, Lyon, France.
Héron B; Department of Paediatric Neurology, Reference Centre for Lysosomal Diseases, Armand Trousseau-La Roche Guyon Hospital and Hospital-University I2-D2 Federation, Sorbonne-Université, Paris, France. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 204. Date of Electronic Publication: 2023 Jul 21.
Typ publikacji:: Observational Study; Journal Article
MeSH Terms:: Niemann-Pick Disease, Type C*/drug therapy
Nervous System Diseases*
Female ; Pregnancy ; Humans ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Retrospective Studies ; 1-Deoxynojirimycin/therapeutic use

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Skocz do pozycji: 11.

Tytuł:: A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.
Autorzy:: Hughes MP; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Nelvagal HR; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Coombe-Tennant O; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Smith D; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Smith C; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Massaro G; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Poupon-Bejuit L; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Platt FM; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Rahim AA; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Jun 13; Vol. 12 (12). Date of Electronic Publication: 2023 Jun 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Therapy*/methods
Intracellular Signaling Peptides and Proteins*/metabolism
Niemann-Pick C1 Protein*/genetics
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/therapy
Niemann-Pick Disease, Type C*/metabolism
Animals ; Mice ; Mutation ; Genetic Vectors ; Promoter Regions, Genetic/genetics

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Skocz do pozycji: 12.

Tytuł:: N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
Autorzy:: Fields T; IntraBio Ltd, Begbroke Science Park, Begroke Hill, Woodstock Road, Oxford, OX5 1PF, UK. .
M Bremova T; Department of Neurology, Inselspital, University Hospital Bern, and University of Bern, Bern, Switzerland.
Billington I; IntraBio Ltd, Begbroke Science Park, Begroke Hill, Woodstock Road, Oxford, OX5 1PF, UK.
Churchill GC; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3QT, UK.
Evans W; Niemann-Pick UK, Suite 2, Vermont House, Concord, Tyne and Wear, Washington, NE37 2SQ, UK.; Primary Care Stratified Medicine (PRISM), Division of Primary Care, University of Nottingham, Nottingham, UK.
Fields C; IntraBio Ltd, Begbroke Science Park, Begroke Hill, Woodstock Road, Oxford, OX5 1PF, UK.
Galione A; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3QT, UK.
Kay R; RK Statistics, Brook House, Mesne Lane, Bakewell, DE45 1AL, UK.
Mathieson T; Niemann-Pick UK, Suite 2, Vermont House, Concord, Tyne and Wear, Washington, NE37 2SQ, UK.; RK Statistics, Brook House, Mesne Lane, Bakewell, DE45 1AL, UK.
Martakis K; Department of Pediatric Neurology, University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany.
Patterson M; Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Platt F; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3QT, UK.
Factor M; IntraBio Ltd, Begbroke Science Park, Begroke Hill, Woodstock Road, Oxford, OX5 1PF, UK.
Strupp M; Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig Maximilians University, Munich, Germany.; Pokaż więcej
Źródło:: Trials [Trials] 2023 May 29; Vol. 24 (1), pp. 361. Date of Electronic Publication: 2023 May 29.
Typ publikacji:: Randomized Controlled Trial; Clinical Trial, Phase III; Journal Article
MeSH Terms:: Niemann-Pick Disease, Type C*/diagnosis
Niemann-Pick Disease, Type C*/drug therapy
Niemann-Pick Disease, Type C*/genetics
Humans ; Cross-Over Studies ; Leucine/therapeutic use ; Quality of Life ; Double-Blind Method

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Skocz do pozycji: 13.

Tytuł:: The experience of living with Niemann-Pick type C: a patient and caregiver perspective.
Autorzy:: Golden E; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
van Gool R; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.
Cay M; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Goodlett B; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Cao A; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Upadhyay J; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. .; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, USA. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 20; Vol. 18 (1), pp. 120. Date of Electronic Publication: 2023 May 20.
Typ publikacji:: Journal Article
MeSH Terms:: Niemann-Pick Disease, Type C*/diagnosis
Mental Disorders*
Humans ; Caregivers ; Prospective Studies ; Phenotype

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Skocz do pozycji: 14.

Tytuł:: Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
Autorzy:: Di Rocco M; Department of Pediatrics, Unit of Rare Diseases IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Vici CD; Bambino Gesù Children'Hospital, Rome, Italy.
Burlina A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
Venturelli F; Pediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of Bologna, Bologna, Italy. .
Fiumara A; Referral Center for Inherited Metabolic Disorders, Pediatric Clinical, University-Hospital 'Gaspare Rodolico - San Marco', Catania, Italy.; Clinical and Experimental Medicine Department, University of Catania, Catania, Italy.
Fecarotta S; Federico II University, Naples, Italy.
Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
Spada M; Department of Pediatrics, University of Torino, Torino, Italy.
Concolino D; Department of Science of Health, Pediatric Unit, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Pession A; Pediatric Unit, Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliero- Universitaria di Bologna, University of Bologna, Bologna, Italy.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 197. Date of Electronic Publication: 2023 Jul 21.
Typ publikacji:: Journal Article
MeSH Terms:: Gaucher Disease*/diagnosis
Lysosomal Storage Diseases*/diagnosis
Niemann-Pick Disease, Type A*
Niemann-Pick Diseases*
Humans ; Infant, Newborn ; Tandem Mass Spectrometry

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Skocz do pozycji: 15.

Tytuł:: Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
Autorzy:: Gaudioso Á; Centro Biologia Molecular Severo Ochoa (CSIC-UAM), 28049 Madrid, Spain.
Moreno-Huguet P; Centro Biologia Molecular Severo Ochoa (CSIC-UAM), 28049 Madrid, Spain.
Casas J; RUBAM, IQAC-CSIC & CIBEREHD, 08034 Barcelona, Spain.
Schuchman EH; Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Ledesma MD; Centro Biologia Molecular Severo Ochoa (CSIC-UAM), 28049 Madrid, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Jun 05; Vol. 24 (11). Date of Electronic Publication: 2023 Jun 05.
Typ publikacji:: Journal Article
MeSH Terms:: Niemann-Pick Disease, Type A*/genetics
Niemann-Pick Diseases*
Mice ; Animals ; Sphingomyelin Phosphodiesterase/genetics ; Choline ; Sphingolipids ; Sphingomyelins ; Diet ; Mice, Knockout ; Disease Models, Animal

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Skocz do pozycji: 16.

Tytuł:: Molecular Mind Games: The Medicinal Action of Cyclodextrins in Neurodegenerative Diseases.
Autorzy:: Braga SS; LAQV-REQUIMTE (Associated Laboratory for Green Chemistry), Department of Chemistry, University of Aveiro, 3810-193 Aveiro, Portugal.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2023 Apr 12; Vol. 13 (4). Date of Electronic Publication: 2023 Apr 12.
Typ publikacji:: Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:: Cyclodextrins*/pharmacology
Cyclodextrins*/therapeutic use
Neurodegenerative Diseases*/drug therapy
Niemann-Pick Disease, Type C*/drug therapy
Niemann-Pick Disease, Type C*/metabolism
Humans ; 2-Hydroxypropyl-beta-cyclodextrin/pharmacology ; 2-Hydroxypropyl-beta-cyclodextrin/therapeutic use ; Cholesterol/metabolism

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Skocz do pozycji: 17.

Tytuł:: SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Autorzy:: Wang R; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.; Affiliated Hospital of Hunan University of Arts and Science (the Maternal and Child Health Hospital), Medical college, 3150 Dongting Ave., Changde, Hunan Province, People's Republic of China, 415000.
Qin Z; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Huang L; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Luo H; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Peng H; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Zhou X; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Zhao Z; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Liu M; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.; Changde Research Centre for Artificial Intelligence and Biomedicine, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China.
Yang P; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China. pinhong_.; Changde Research Centre for Artificial Intelligence and Biomedicine, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China. pinhong_.
Shi T; College of Life and Environmental Sciences, Hunan University of Arts and Science, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China. .; Changde Research Centre for Artificial Intelligence and Biomedicine, 3150 Dongting Ave., Changde, 415000, Hunan Province, People's Republic of China. .; Pokaż więcej
Źródło:: Hereditas [Hereditas] 2023 Mar 13; Vol. 160 (1), pp. 11. Date of Electronic Publication: 2023 Mar 13.
Typ publikacji:: Journal Article
MeSH Terms:: Niemann-Pick Disease, Type A*/diagnosis
Niemann-Pick Disease, Type A*/genetics
Niemann-Pick Disease, Type A*/pathology
Niemann-Pick Diseases*/diagnosis
Niemann-Pick Diseases*/genetics
Sphingomyelin Phosphodiesterase*/genetics
Sphingomyelin Phosphodiesterase*/metabolism
Humans ; Endothelial Cells/metabolism ; Endothelial Cells/pathology ; Genetic Association Studies ; Mutation

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Skocz do pozycji: 18.

Tytuł:: Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
Autorzy:: Lachmann RH; National Hospital for Neurology, University College London Hospitals, London, UK. .
Diaz GA; Icahn School of Medicine at Mount Sinai, New York, NY, US.
Wasserstein MP; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, US.
Armstrong NM; Sanofi, Cambridge, MA, USA.
Yarramaneni A; Sanofi, Bridgewater, NJ, USA.
Kim Y; Sanofi, Paris, France.
Kumar M; Sanofi, Bridgewater, NJ, USA.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 25; Vol. 18 (1), pp. 94. Date of Electronic Publication: 2023 Apr 25.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Niemann-Pick Disease, Type A*
Niemann-Pick Diseases*
Adult ; Humans ; Enzyme Replacement Therapy ; Lipids/therapeutic use ; Sphingomyelin Phosphodiesterase/therapeutic use

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Skocz do pozycji: 19.

Tytuł:: Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Autorzy:: Geberhiwot T; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK. .; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK. .
Wasserstein M; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
Wanninayake S; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Bolton SC; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Dardis A; Regional Coordinator Centre for Rare Disease, AMC Hospital of Udine, Udine, Italy.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z2, Canada.
Lidove O; Department of Internal Medicine, Hôpital de La Croix Saint Simon, Paris, France.
Dawson C; University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Giugliani R; BioDiscovery and DR BRASIL Research Group, HCPA, Department of Genetics and PPGBM, UFRGS, INAGEMP, DASA, and Casa Dos Raros, Porto Alegre, Brazil.
Imrie J; International Niemann-Pick Disease Registry, Newcastle, UK.
Hopkin J; National Niemann-Pick Disease Foundation, Fort Atkinson, WI, USA.
Green J; International Niemann-Pick Disease Registry, Newcastle, UK.
de Vicente Corbeira D; ASMD España, Madrid, Spain.
Madathil S; Department of Respiratory Medicine, University Hospital Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK.
Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany.
Ezgü F; Division of Pediatric Metabolism and Division of Pediatric Genetics, Department of Pediatrics, Gazi University Faculty of Medicine, 06560, Ankara, Turkey.
Pettazzoni M; Biochemistry and Molecular Biology and Reference Center for Inherited Metabolic Disorders, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France.
Sjouke B; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, F5-169, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
Hollak C; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, F5-169, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
Vanier MT; INSERM, Hospices Civils de Lyon, Lyon, France.
McGovern M; Yale School of Medicine, New Haven, CT, USA.
Schuchman E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Room 14-20A, New York, NY, 10029, USA.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 17; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2023 Apr 17.
Typ publikacji:: Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't
MeSH Terms:: Niemann-Pick Disease, Type A*/genetics
Niemann-Pick Diseases*
Adult ; Humans ; Consensus ; Mutation ; Sphingomyelin Phosphodiesterase/genetics ; Systematic Reviews as Topic

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Skocz do pozycji: 20.

Tytuł:: Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease.
Autorzy:: Kim S; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Ochoa K; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Melli SE; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Yousufzai FAK; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Barrera ZD; Department of Biological Science, Rowan University, Glassboro, NJ, USA.
Williams AA; Department of Chemistry and Biochemistry, Rowan University, Glassboro, NJ, USA.
McIntyre G; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Delgado E; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Bolish JN; Department of Chemistry and Biochemistry, Rowan University, Glassboro, NJ, USA.
Macleod CM; Department of Biology, Providence College, Providence, RI, USA.
Boghos M; Department of Biology, Providence College, Providence, RI, USA.
Lens HP; Department of Biology, Providence College, Providence, RI, USA.
Ramos AG; Department of Biology, Providence College, Providence, RI, USA.
Wilson VB; Department of Biological Science, Rowan University, Glassboro, NJ, USA.
Maloney K; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Padron ZM; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Khan AH; Department of Molecular and Cellular Biosciences, Rowan University, Glassboro, NJ, USA.
Blanco RE; The Institute of Neurobiology, University of Puerto Rico, San Juan, PR, USA.
Soto I; Department of Biology, Providence College, Providence, RI, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Apr 06; Vol. 13 (1), pp. 5665. Date of Electronic Publication: 2023 Apr 06.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:: Purkinje Cells*/metabolism
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/metabolism
Mice ; Animals ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Disease Models, Animal ; Lysosomes/metabolism

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