المؤلفون: Zykaj E; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Abboud C; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Asadi P; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Warsame S; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Almousa H; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Milev MP; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Greco BM; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., López-Sánchez M; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.; Hospital del Mar, Hospital del Mar Research Institute (IMIM), 08003 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain., Bratkovic D; Women's and Children's Hospital, Metabolic Clinic, North Adelaide, SA 5006, Australia., Kachroo AH; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada., Pérez-Jurado LA; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.; Hospital del Mar, Hospital del Mar Research Institute (IMIM), 08003 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain.; Women's and Children's Hospital, Metabolic Clinic, North Adelaide, SA 5006, Australia., Sacher M; Department of Biology, Concordia University, Montreal, QC H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada.

المصدر: Cells [Cells] 2024 Aug 30; Vol. 13 (17). Date of Electronic Publication: 2024 Aug 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Saccharomyces cerevisiae*/genetics , Saccharomyces cerevisiae*/metabolism , Neurodevelopmental Disorders*/genetics , Mutation*/genetics , Vesicular Transport Proteins*/genetics , Vesicular Transport Proteins*/metabolism, Humans ; Female ; CRISPR-Cas Systems/genetics

المؤلفون: Guo Q; The University of Queensland, Institute for Molecular Bioscience, St Lucia, QLD 4072, Australia., Chen KE; The University of Queensland, Institute for Molecular Bioscience, St Lucia, QLD 4072, Australia., Gimenez-Andres M; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom., Jellett AP; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom., Gao Y; The University of Queensland, Institute for Molecular Bioscience, St Lucia, QLD 4072, Australia., Simonetti B; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom., Liu M; The University of Queensland, Institute for Molecular Bioscience, St Lucia, QLD 4072, Australia., Danson CM; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom., Heesom KJ; Bristol Proteomics Facility, School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom., Cullen PJ; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom., Collins BM; The University of Queensland, Institute for Molecular Bioscience, St Lucia, QLD 4072, Australia.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Aug 13; Vol. 121 (33), pp. e2405041121. Date of Electronic Publication: 2024 Aug 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Endosomes*/metabolism , Sorting Nexins*/metabolism , Sorting Nexins*/genetics , Sorting Nexins*/chemistry , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics , Vesicular Transport Proteins*/chemistry, Humans ; Microfilament Proteins/metabolism ; Microfilament Proteins/genetics ; Microfilament Proteins/chemistry ; Protein Binding ; Crystallography, X-Ray ; Binding Sites ; Models, Molecular

المؤلفون: Malhotra V; Centre for Genomic Regulation, The Barcelona Institute of Science and Technology , Barcelona, Spain.; Universitat Pompeu Fabra , Barcelona, Spain.; ICREA , Barcelona, Spain.

المصدر: The Journal of cell biology [J Cell Biol] 2024 Aug 05; Vol. 223 (8). Date of Electronic Publication: 2024 Jul 03.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: COP-Coated Vesicles*/metabolism , Endoplasmic Reticulum*/metabolism , Protein Transport* , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics, Humans ; Animals

المؤلفون: Kasberg W; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706., Luong P; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706., Minushkin K; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706., Pustova I; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706., Swift KA; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706., Zhao M; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706., Audhya A; Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, Madison, WI, 53706.

المصدر: Molecular biology of the cell [Mol Biol Cell] 2024 Aug 01; Vol. 35 (8), pp. ar113. Date of Electronic Publication: 2024 Jul 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9201390 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-4586 (Electronic) Linking ISSN: 10591524 NLM ISO Abbreviation: Mol Biol Cell Subsets: MEDLINE

مواضيع طبية MeSH: COP-Coated Vesicles*/metabolism , Endoplasmic Reticulum*/metabolism , Protein Transport* , Saccharomyces cerevisiae Proteins*/metabolism , Saccharomyces cerevisiae Proteins*/genetics , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics , Saccharomyces cerevisiae*/metabolism , Saccharomyces cerevisiae*/genetics , Monomeric GTP-Binding Proteins*/metabolism, GTPase-Activating Proteins/metabolism ; GTPase-Activating Proteins/genetics ; Golgi Apparatus/metabolism

المؤلفون: Chen L; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China.; Department of Dermatology, The First Affiliated Hospital, Jinan University, Guangzhou, China., Zhang J; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China., Xu W; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China., Chen J; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China., Tang Y; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China., Xiong S; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China., Li Y; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China., Zhang H; Department of Dermatology, The First Affiliated Hospital, Jinan University, Guangzhou, China. tzhangh@jnu.edu.cn., Li M; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China. jnulimanmei1209@126.com., Liu Z; State Key Laboratory of Bioactive Molecules and Druggability Assessment & College of Pharmacy, Jinan University, Guangzhou, China. tliuzh@jnu.edu.cn.; Guangdong Provincial Key Laboratory of Bioengineering Medicine & College of Life Science and Technology, Jinan University, Guangzhou, China. tliuzh@jnu.edu.cn.

المصدر: Nature communications [Nat Commun] 2024 Jul 26; Vol. 15 (1), pp. 6311. Date of Electronic Publication: 2024 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Autophagy* , Lysosomes*/metabolism , Cholesterol*/metabolism , Virus Replication* , rab7 GTP-Binding Proteins* , Receptors, LDL*/metabolism , Receptors, LDL*/genetics , Respiratory Syncytial Virus Infections*/metabolism , Respiratory Syncytial Virus Infections*/virology , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics , rab GTP-Binding Proteins*/metabolism , rab GTP-Binding Proteins*/genetics, Humans ; Animals ; Mice ; Dynactin Complex/metabolism ; Endoplasmic Reticulum/metabolism ; Dyneins/metabolism ; Adaptor Proteins, Signal Transducing/metabolism ; Adaptor Proteins, Signal Transducing/genetics ; Respiratory Syncytial Virus, Human/physiology ; Autophagosomes/metabolism ; Viral Fusion Proteins/metabolism ; Viral Fusion Proteins/genetics ; HeLa Cells ; A549 Cells

المؤلفون: Fu C; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA., Yang N; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA., Chuang JZ; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA., Nakajima N; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA.; Department of Urology, Tokai University School of Medicipne, Tokyo, Japan., Iraha S; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA.; Department of Ophthalmology, Faculty of Life Sciences, Kumamoto University; Department of Ophthalmology, National Sanatorium Kikuchi Keifuen, Kumamoto, Japan., Roy N; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA., Wu Z; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA., Jiang Z; UCLA Stein Eye Institute, and Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Otsu W; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA.; Department of Biomedical Research Laboratory, Gifu Pharmaceutical University, Gifu, Japan., Radu RA; UCLA Stein Eye Institute, and Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Yang HH; The Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Lee MP; The Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Worgall TS; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA., Xiong WC; Department of Neurosciences, School of Medicine, Case Western Reserve University, Cleveland, OH, USA., Sung CH; Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA. chsung@med.cornell.edu.; Department of Cell and Developmental Biology, Weill Cornell Medicine, 1300 York Avenue, New York, NY, 10065, USA. chsung@med.cornell.edu.

المصدر: Nature communications [Nat Commun] 2024 Jul 23; Vol. 15 (1), pp. 5970. Date of Electronic Publication: 2024 Jul 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Synuclein*/metabolism , alpha-Synuclein*/genetics , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics , Retinal Degeneration*/genetics , Retinal Degeneration*/metabolism , Retinal Degeneration*/pathology, Animals ; Mice ; Retinal Rod Photoreceptor Cells/metabolism ; Retinal Rod Photoreceptor Cells/pathology ; Endosomes/metabolism ; Microglia/metabolism ; Microglia/pathology ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Parkinson Disease/pathology ; Retina/metabolism ; Retina/pathology ; Mice, Knockout ; Disease Models, Animal ; Humans ; Synapses/metabolism ; Synapses/pathology ; Male

المؤلفون: Banerjee S; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Bongu S; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Hughes SP; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Gaboury EK; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Carver CE; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Luo X; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Bessert DA; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA., Thummel R; Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, MI 48201, USA.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 01; Vol. 25 (13). Date of Electronic Publication: 2024 Jul 01.

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: Zebrafish*/genetics , Vesicular Transport Proteins*/genetics , Vesicular Transport Proteins*/metabolism , Zebrafish Proteins*/genetics , Zebrafish Proteins*/metabolism, Animals ; Mutation ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Disease Models, Animal ; Myelin Sheath/metabolism ; Behavior, Animal

المؤلفون: Li X; Department of Surgical Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China., Xie G; Department of Surgical Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China., Chen J; Department of General Surgery, the First Affiliated Hospital, Nanjing Medical University, Nanjing, 210029, China.; Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 211166, China.; Department of General Surgery, Northern Jiangsu People's Hospital, Yangzhou, 225001, China., Wang Y; Department of Pathology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China., Zhai J; Department of Surgical Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China., Shen L; Department of Surgical Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210029, China. shenlz@njmu.edu.cn.; Department of General Surgery, the First Affiliated Hospital, Nanjing Medical University, Nanjing, 210029, China. shenlz@njmu.edu.cn.; Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 211166, China. shenlz@njmu.edu.cn.

المصدر: British journal of cancer [Br J Cancer] 2024 Jul; Vol. 131 (2), pp. 271-282. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1827 (Electronic) Linking ISSN: 00070920 NLM ISO Abbreviation: Br J Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Stomach Neoplasms*/metabolism , Stomach Neoplasms*/pathology , Stomach Neoplasms*/genetics , Interleukin-8*/metabolism , Interleukin-8*/genetics , Cancer-Associated Fibroblasts*/metabolism , Cancer-Associated Fibroblasts*/pathology , Proteoglycans*/metabolism , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics, Humans ; Cell Line, Tumor ; Jumonji Domain-Containing Histone Demethylases/metabolism ; Jumonji Domain-Containing Histone Demethylases/genetics ; Gene Expression Regulation, Neoplastic ; Cyclic AMP Response Element-Binding Protein/metabolism ; Animals ; Mice ; Male

المؤلفون: Zhang Y; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Orthopedics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Li Z; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Orthopaedics, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai 200092, China., Chen C; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Orthopedics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wei W; The First Department of Orthopaedics, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an Jiaotong University, Xi'an, Shaanxi, China., Li Z; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., Zhou H; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., He W; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., Xia J; Department of Orthopedics, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., Li B; Department of Orthopedics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yang Y; Department of Orthopedics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

المصدر: Connective tissue research [Connect Tissue Res] 2024 Jul; Vol. 65 (4), pp. 330-342. Date of Electronic Publication: 2024 Jul 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0365263 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8438 (Electronic) Linking ISSN: 03008207 NLM ISO Abbreviation: Connect Tissue Res Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthritis*/pathology , Osteoarthritis*/metabolism , Osteoarthritis*/genetics , Chemokine CCL3*/metabolism , Chemokine CCL3*/genetics , Macrophages*/metabolism , Macrophages*/pathology , Chondrocytes*/metabolism , Chondrocytes*/pathology , Vesicular Transport Proteins*/metabolism , Vesicular Transport Proteins*/genetics, Humans ; Male ; Proteoglycans/metabolism ; Female ; Middle Aged ; THP-1 Cells ; Aged ; Cell Movement

المؤلفون: Yu H; Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang, China., Li L; Department of Neurology, Zhoushan Hospital, Wenzhou Medical University, Zhoushan, Zhejiang, China., Li X; Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang, China., Liu H; Research Centre for Intelligent Healthcare, Faculty of Health and Life Sciences, Coventry University, Coventry, UK.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70015.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Vesicular Transport Proteins*/genetics , Neuroacanthocytosis*/genetics , Neuroacanthocytosis*/pathology, Humans ; Male ; Female ; Adult ; Adolescent ; Mutation ; Middle Aged ; Child ; Chorea/genetics ; Chorea/pathology ; Phenotype ; DNA Copy Number Variations ; East Asian People ; Amino Acid Transport Systems, Neutral

SCR Disease Name: Neuroacanthocytosis, Mcleod Type