المؤلفون: Hosseini K; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Fallahi J; Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Razban V; Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Sirat RZ; Zand Institute of Higher Education, Shiraz, Iran., Varasteh M; Zand Institute of Higher Education, Shiraz, Iran., Tarhriz V; Cardiovascular Center of Excellence, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA.

المصدر: Cell biochemistry and function [Cell Biochem Funct] 2024 Jun; Vol. 42 (4), pp. e4028.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8305874 Publication Model: Print Cited Medium: Internet ISSN: 1099-0844 (Electronic) Linking ISSN: 02636484 NLM ISO Abbreviation: Cell Biochem Funct Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Therapy* , Mutation* , Niemann-Pick C1 Protein*, Humans ; Intracellular Signaling Peptides and Proteins/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Niemann-Pick Disease, Type C/therapy ; Niemann-Pick Disease, Type C/metabolism ; Niemann-Pick Disease, Type C/genetics ; Niemann-Pick Disease, Type C/pathology ; Niemann-Pick Diseases/genetics ; Niemann-Pick Diseases/metabolism ; Niemann-Pick Diseases/therapy ; Niemann-Pick Diseases/pathology ; Sphingomyelin Phosphodiesterase/genetics ; Sphingomyelin Phosphodiesterase/metabolism ; Vesicular Transport Proteins/metabolism ; Vesicular Transport Proteins/genetics

المؤلفون: Goicoechea L; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain., Torres S; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain., Fàbrega L; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain., Barrios M; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain., Núñez S; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain., Casas J; Research Unit on BioActive Molecules (RUBAM), Departament de Química Orgànica Biològica, Institut D'Investigacions Químiques I Ambientals de Barcelona, Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Fabrias G; Research Unit on BioActive Molecules (RUBAM), Departament de Química Orgànica Biològica, Institut D'Investigacions Químiques I Ambientals de Barcelona, Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., García-Ruiz C; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain; Research Center for ALPD, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA. Electronic address: carmen.garcia@iibb.csic.es., Fernández-Checa JC; Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB), CSIC, Barcelona, Spain; Liver Unit, Hospital Clinic I Provincial de Barcelona, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red (CIBEREHD), Barcelona, Spain; Research Center for ALPD, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA. Electronic address: checa229@yahoo.com.

المصدر: Redox biology [Redox Biol] 2024 Jun; Vol. 72, pp. 103150. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 101605639 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-2317 (Electronic) Linking ISSN: 22132317 NLM ISO Abbreviation: Redox Biol Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Fluidity* , S-Adenosylmethionine*/metabolism , Mitochondrial Membranes*/metabolism , Niemann-Pick Disease, Type C*/metabolism , Niemann-Pick Disease, Type C*/drug therapy , Niemann-Pick Disease, Type C*/genetics , Glutathione*/metabolism , Brain*/metabolism, Animals ; Mice ; Mitochondria/metabolism ; Niemann-Pick C1 Protein ; Disease Models, Animal ; Mice, Knockout ; Phosphatidylcholines/metabolism

المؤلفون: Brown RDR; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Mahawar U; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Wattenberg BW; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Spiegel S; Department of Biochemistry and Molecular Biology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA. Electronic address: sarah.spiegel@vcuhealth.org.

المصدر: Journal of lipid research [J Lipid Res] 2024 Jun; Vol. 65 (6), pp. 100556. Date of Electronic Publication: 2024 May 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Sphingolipids*/metabolism , Sphingolipids*/biosynthesis , Autophagy* , Niemann-Pick Disease, Type C*/metabolism , Niemann-Pick Disease, Type C*/pathology , Niemann-Pick Disease, Type C*/genetics, Humans ; Membrane Proteins/metabolism ; Membrane Proteins/genetics ; Animals ; Niemann-Pick C1 Protein ; Serine C-Palmitoyltransferase/metabolism ; Serine C-Palmitoyltransferase/genetics ; Serine C-Palmitoyltransferase/antagonists & inhibitors

المؤلفون: Farhat NY; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Alexander D; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., McKee K; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Iben J; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Rodriguez-Gil JL; Division of Medical Genetics, Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, CA 94304, USA., Wassif CA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Cawley NX; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Balch WE; Department of Molecular Medicine, Scripps Research, La Jolla, CA 92037, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 11; Vol. 25 (8). Date of Electronic Publication: 2024 Apr 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Sterol O-Acyltransferase*/genetics , Sterol O-Acyltransferase*/metabolism, Humans ; Male ; Female ; Niemann-Pick C1 Protein ; Child ; Polymorphism, Single Nucleotide ; Animals ; Mice ; Phenotype ; Adolescent ; Child, Preschool ; Genes, Modifier ; Adult ; Alleles ; Severity of Illness Index ; Genotype ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Young Adult

المؤلفون: Wheeler S; Leicester School of Pharmacy, De Montfort University, Leicester, UK., Bhardwaj M; Leicester School of Pharmacy, De Montfort University, Leicester, UK., Kenyon V; Atomwise, San Francisco, CA, USA., Ferraz MJ; Leiden Institute of Chemistry, Leiden University, The Netherlands., Aerts JMFG; Leiden Institute of Chemistry, Leiden University, The Netherlands., Sillence DJ; Leicester School of Pharmacy, De Montfort University, Leicester, UK.

المصدر: FEBS letters [FEBS Lett] 2024 Feb; Vol. 598 (4), pp. 477-484. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/drug therapy , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Mitochondrial Diseases* , Phosphoproteins*, Humans ; Glucosylceramidase/genetics ; Glucosylceramidase/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Cholesterol/metabolism ; Niemann-Pick C1 Protein/metabolism ; Receptors, GABA/metabolism

المؤلفون: Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Locci S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Pucci B; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Neurofisiologia Clinica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Leoni V; Laboratory of Clinical Chemistry, Hospital of Desio, ASST Brianza, School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy., Gasparini D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Tardelli E; Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy., Chincarini A; National Institute of Nuclear Physics ((INFN), Genoa, Italy., Sestini S; Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy., Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Calambrone, Italy., Zetterberg H; Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; UK Dementia Research Institute at UCL, London, UK.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.; Hong Kong Center for Neurodegenerative Diseases, Hong Kong Special Administrative Region, People's Republic of China., De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Mignarri A; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy andrea.mignarri@ao-siena.toscana.it.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.

المصدر: Journal of medical genetics [J Med Genet] 2024 Mar 21; Vol. 61 (4), pp. 332-339. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Alzheimer Disease*/genetics , Neurodegenerative Diseases* , Niemann-Pick Disease, Type C*/diagnosis , Niemann-Pick Disease, Type C*/genetics , Oxysterols*, Humans ; Mutation ; Niemann-Pick C1 Protein/genetics

المؤلفون: 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_2002@hebmu.edu.cn., Huang H; Department of Internal Medicine, Shijiazhuang Ping'an Hospital, Hebei Medical University, Shijiazhuang, Hebei, China. huang71526@163.com.

المصدر: BMC infectious diseases [BMC Infect Dis] 2024 Jan 30; Vol. 24 (1), pp. 145. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968551 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2334 (Electronic) Linking ISSN: 14712334 NLM ISO Abbreviation: BMC Infect Dis Subsets: MEDLINE

مواضيع طبية MeSH: 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

المؤلفون: 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.

المصدر: PloS one [PLoS One] 2023 Nov 30; Vol. 18 (11), pp. e0294312. Date of Electronic Publication: 2023 Nov 30 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: 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

المؤلفون: Eskes ECB; Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands., van der Lienden MJC; Leiden Institute of Chemistry, University of Leiden, Department of Medical Biochemistry, Einsteinweg 55, 2333 CC Leiden, the Netherlands., Sjouke B; Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands., van Vliet L; Leiden Institute of Chemistry, University of Leiden, Department of Medical Biochemistry, Einsteinweg 55, 2333 CC Leiden, the Netherlands., Brands MMMG; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Division of Metabolic Diseases, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Hollak CEM; Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands., Aerts JMFG; Leiden Institute of Chemistry, University of Leiden, Department of Medical Biochemistry, Einsteinweg 55, 2333 CC Leiden, the Netherlands. Electronic address: j.m.f.g.aerts@LIC.leidenuniv.nl.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Aug; Vol. 139 (4), pp. 107631. Date of Electronic Publication: 2023 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Glycoproteins*/blood , Niemann-Pick Disease, Type B*/blood , Niemann-Pick Disease, Type B*/diagnosis, Humans ; Male ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Biomarkers/blood ; Niemann-Pick Disease, Type A/blood ; Niemann-Pick Disease, Type A/diagnosis ; Patient Acuity ; Gaucher Disease/blood ; Gaucher Disease/diagnosis ; Case-Control Studies

المؤلفون: Rus AA; Department of Molecular Cell Biology, Institute of Biochemistry, Bucharest, Romania., Militaru IV; Department of Molecular Cell Biology, Institute of Biochemistry, Bucharest, Romania., Popa I; Department of Molecular Cell Biology, Institute of Biochemistry, Bucharest, Romania., Munteanu CVA; Department of Bioinformatics and Structural Biochemistry, Institute of Biochemistry, Bucharest, Romania., Sima LE; Department of Molecular Cell Biology, Institute of Biochemistry, Bucharest, Romania., Platt N; Department of Pharmacology, University of Oxford, Oxford, UK., Platt FM; Department of Pharmacology, University of Oxford, Oxford, UK., Petrescu ȘM; Department of Molecular Cell Biology, Institute of Biochemistry, Bucharest, Romania. Electronic address: stefana.petrescu@biochim.ro.

المصدر: The Journal of biological chemistry [J Biol Chem] 2023 Aug; Vol. 299 (8), pp. 105024. Date of Electronic Publication: 2023 Jul 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Diseases*/genetics , Niemann-Pick Diseases*/metabolism , Niemann-Pick Disease, Type C*/metabolism, Humans ; Melanosomes/metabolism ; Monophenol Monooxygenase/metabolism ; Niemann-Pick C1 Protein/metabolism ; Cholesterol/metabolism