المؤلفون: Javanshad R; Department of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States., Nguyen TTA; Department of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States., Azaria RD; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan 48109, United States., Li W; Department of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States., Edmison D; Department of Anatomy and Cell Biology, University of Illinois Chicago, Chicago, Illinois 60612, United States., Gong LW; Department of Biological Sciences, University of Illinois Chicago, Chicago, Illinois 60607, United States., Gowrishankar S; Department of Anatomy and Cell Biology, University of Illinois Chicago, Chicago, Illinois 60612, United States., Lieberman AP; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan 48109, United States., Schultz ML; Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, United States., Cologna SM; Department of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.

المصدر: Journal of proteome research [J Proteome Res] 2024 Aug 02; Vol. 23 (8), pp. 3174-3187. Date of Electronic Publication: 2024 Apr 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101128775 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3907 (Electronic) Linking ISSN: 15353893 NLM ISO Abbreviation: J Proteome Res Subsets: MEDLINE

مواضيع طبية MeSH: Cerebral Cortex*/metabolism , Niemann-Pick C1 Protein* , Protein Interaction Maps*, Animals ; Mice ; Humans ; Proteomics/methods ; Intracellular Signaling Peptides and Proteins/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Niemann-Pick Disease, Type C/metabolism ; Niemann-Pick Disease, Type C/genetics ; Mutation ; Mice, Knockout ; Cholesterol/metabolism ; Neurons/metabolism

المؤلفون: Almenabawy N; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada., Hung C; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada., Sosova I; Alberta Newborn Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63595. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick C1 Protein*/genetics , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/diagnosis , Niemann-Pick Disease, Type C*/pathology , Exome Sequencing* , Phenotype*, Humans ; Male ; Intracellular Signaling Peptides and Proteins/genetics ; Mutation/genetics ; Infant

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: Fabiano M; Department of Neurology, Universitätsklinikum Bonn, 53127 Bonn, Germany.; Institut für Biochemie und Molekularbiologie, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53115 Bonn, Germany., Oikawa N; Department of Neurology, Universitätsklinikum Bonn, 53127 Bonn, Germany., Kerksiek A; Institute of Clinical Chemistry and Clinical Pharmacology, Universitätsklinikum Bonn, 53127 Bonn, Germany., Furukawa JI; Department of Orthopedic Surgery, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan.; Division of Glyco-Systems Biology, Institute for Glyco-Core Research, Tokai National Higher Education and Research System, Nagoya 466-8550, Japan., Yagi H; Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 467-8603, Japan.; Exploratory Research Center on Life and Living Systems (ExCELLS), National Institutes of Natural Sciences, Okazaki 444-8787, Japan., Kato K; Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 467-8603, Japan.; Exploratory Research Center on Life and Living Systems (ExCELLS), National Institutes of Natural Sciences, Okazaki 444-8787, Japan.; Institute for Molecular Science, National Institutes of Natural Sciences, Okazaki 444-8585, Japan., Schweizer U; Institut für Biochemie und Molekularbiologie, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53115 Bonn, Germany., Annaert W; Laboratory for Membrane Trafficking, VIB-Center for Brain and Disease Research, KU Leuven, 3000 Leuven, Belgium.; Department of Neurosciences, KU Leuven, 3000 Leuven, Belgium., Kang J; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Shen J; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, Universitätsklinikum Bonn, 53127 Bonn, Germany., Walter J; Department of Neurology, Universitätsklinikum Bonn, 53127 Bonn, Germany.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 May 16; Vol. 25 (10). Date of Electronic Publication: 2024 May 16.

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: Cholesterol*/metabolism , Fibroblasts*/metabolism , Lysosomes*/metabolism , Niemann-Pick C1 Protein* , Presenilin-1*/genetics , Presenilin-1*/metabolism , Presenilin-2*/metabolism , Presenilin-2*/genetics, Animals ; Mice ; Alzheimer Disease/metabolism ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Glycosylation ; Intracellular Signaling Peptides and Proteins/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Mice, Knockout ; Neurons/metabolism

المؤلفون: Xu J; Department of Hepatobiliary Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, China., Chen F; Department of Nuclear Medicine, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, China., Zhu W; Department of Gastrointestinal Surgery, Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province, China., Zhang W; Department of Nuclear Medicine, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, China. Electronic address: 875099223@qq.com.

المصدر: Gene [Gene] 2024 Mar 01; Vol. 897, pp. 148050. Date of Electronic Publication: 2023 Nov 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma, Hepatocellular*/genetics , Liver Neoplasms*/genetics , Niemann-Pick C1 Protein*/metabolism, Humans ; Autophagy ; Cell Transformation, Neoplastic ; Prognosis ; Reproducibility of Results

المؤلفون: Guan L; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.; Henan International Joint Laboratory of Noninvasive Neuromodulation, Xinxiang, Henan, China., Jia Z; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China., Xu K; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China., Yang M; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China., Li X; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China., Qiao L; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China., Liu Y; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China., Lin J; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.; Henan International Joint Laboratory of Stem Cell Medicine, School of Medical Engineering, Xinxiang Medical University, Xinxiang, Henan, China.

المصدر: Animal genetics [Anim Genet] 2024 Feb; Vol. 55 (1), pp. 99-109. Date of Electronic Publication: 2023 Dec 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick C1 Protein*/genetics , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Niemann-Pick Disease, Type C*/pathology, Animals ; Mice ; Fibrosis ; Kidney/metabolism ; Kidney/pathology ; Mutation

المؤلفون: Reyhani-Ardabili M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fathi M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.

المصدر: Molecular biology reports [Mol Biol Rep] 2024 Jul 20; Vol. 51 (1), pp. 828. Date of Electronic Publication: 2024 Jul 20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: CRISPR-Cas Systems*/genetics , Niemann-Pick Disease, Type C*/therapy , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Gene Editing*/methods , Genetic Therapy*/methods , Cholesterol*/metabolism, Humans ; Animals ; Niemann-Pick C1 Protein ; Disease Models, Animal

المؤلفون: Manke MC; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany., Roslan A; Department of Pharmacology, Toxicology and Clinical Pharmacy, University of Tübingen, Germany., Walker B; DFG Heisenberg Group Thrombocardiology., Münzer P; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany., Kollotzek F; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany., Peng B; Leibniz-Institut für Analytische Wissenschaften-ISAS, Dortmund, Germany; Division of Rheumatology, Department of Medicine Solna, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden., Mencl S; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Coman C; Department of Analytical Chemistry, University of Vienna, Austria., Szepanowski RD; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Schulze H; Institute of Experimental Biomedicine, University Hospital Würzburg, Germany., Lieberman AP; Department of Pathology, University of Michigan Medical School, USA., Lang F; Department of Physiology, University of Tübingen, Germany., Gawaz M; DFG Heisenberg Group Thrombocardiology., Kleinschnitz C; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Lukowski R; Department of Pharmacology, Toxicology and Clinical Pharmacy, University of Tübingen, Germany., Ahrends R; Leibniz-Institut für Analytische Wissenschaften-ISAS, Dortmund, Germany; Department of Analytical Chemistry, University of Vienna, Austria., Bobe R; HITh, UMR_S1176, INSERM, Université Paris-Saclay, France., Borst O; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany. Electronic address: oliver.borst@med.uni-tuebingen.de.

المصدر: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Jul; Vol. 21 (7), pp. 1957-1966. Date of Electronic Publication: 2023 Apr 11.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick C1 Protein* , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism, Mice ; Animals ; Calcium/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Mice, Knockout

المؤلفون: Palmulli R; Institut Curie, PSL Research University, CNRS, UMR144, 26 rue d'Ulm, 75248, Paris Cedex 05, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université de Paris, Paris, France., Couty M; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université de Paris, Paris, France.; CRCI2NA, Nantes Université, Inserm UMR1307, CNRS UMR6075, Université d'Angers, Nantes, France., Piontek MC; Moleculaire Biofysica, Zernike Instituut, Rijksuniversiteit Groningen, Groningen, The Netherlands., Ponnaiah M; Foundation for Innovation in Cardiometabolism and Nutrition (IHU ICAN, ICAN OMICS and ICAN I/O), F-75013, Paris, France., Dingli F; CurieCoreTech Spectrométrie de Masse Protéomique, Institut Curie, PSL Research University, Paris, France., Verweij FJ; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université de Paris, Paris, France., Charrin S; Centre d'Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Université, Inserm, Paris, France., Tantucci M; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université de Paris, Paris, France., Sasidharan S; Moleculaire Biofysica, Zernike Instituut, Rijksuniversiteit Groningen, Groningen, The Netherlands., Rubinstein E; Centre d'Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Université, Inserm, Paris, France., Kontush A; ICAN, National Institute for Health and Medical Research, Paris, France., Loew D; CurieCoreTech Spectrométrie de Masse Protéomique, Institut Curie, PSL Research University, Paris, France., Lhomme M; Foundation for Innovation in Cardiometabolism and Nutrition (IHU ICAN, ICAN OMICS and ICAN I/O), F-75013, Paris, France., Roos WH; Moleculaire Biofysica, Zernike Instituut, Rijksuniversiteit Groningen, Groningen, The Netherlands., Raposo G; Institut Curie, PSL Research University, CNRS, UMR144, 26 rue d'Ulm, 75248, Paris Cedex 05, France.; Institut Curie, PSL Research University, CNRS, UMR144, Cell and Tissue Imaging Facility (PICT-IBiSA), 26, rue d'Ulm, 75248, Paris Cedex 05, France., van Niel G; Institut Curie, PSL Research University, CNRS, UMR144, 26 rue d'Ulm, 75248, Paris Cedex 05, France. guillaume.van-niel@inserm.fr.; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université de Paris, Paris, France. guillaume.van-niel@inserm.fr.; CRCI2NA, Nantes Université, Inserm UMR1307, CNRS UMR6075, Université d'Angers, Nantes, France. guillaume.van-niel@inserm.fr.; GHU-Paris Psychiatrie et Neurosciences, Hôpital Sainte Anne, Paris, France. guillaume.van-niel@inserm.fr.

المصدر: Nature cell biology [Nat Cell Biol] 2024 Jul; Vol. 26 (7), pp. 1093-1109. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4679 (Electronic) Linking ISSN: 14657392 NLM ISO Abbreviation: Nat Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: Tetraspanin 30*/metabolism , Cholesterol*/metabolism , Exosomes*/metabolism , Endosomes*/metabolism, Humans ; Animals ; Niemann-Pick C1 Protein ; Intracellular Signaling Peptides and Proteins/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Carrier Proteins/metabolism ; Carrier Proteins/genetics ; Biological Transport ; Actins/metabolism ; Mice

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