المؤلفون: Sheth H; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. harsh.sheth@frige.co.in., Nair A; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Bhavsar R; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Kamate M; KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Bavdekar A; Department of Pediatrics, K.E.M Hospital, Pune, India., Kadam S; Department of Pediatrics, K.E.M Hospital, Pune, India., Nampoothiri S; Department of Paediatrics, Amrita School of Medicine, Kochi, India., Panigrahi I; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Kaur A; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Shah S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Mehta S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Jagadeesan S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India., Suresh I; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India., Kapoor S; Division of Genetics and Metabolism Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India., Bajaj S; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India., Devi RR; Rainbow Children's Hospital, Hyderabad, India., Prajapati A; Genetic Care Clinic, Ahmedabad, India., Godbole K; Deenanath Mangeshkar Hospital &Amp; Research Centre, Pune, India., Patel H; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Luhar Z; Civil Hospital, Asarwa, Ahmedabad, India., Shah RC; Ankur Institute of Child Health, Ahmedabad, India., Iyer A; Neurokids Clinic, Ahmedabad, India., Bijarnia S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Puri R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Muranjan M; Department of Paediatrics, KEM Hospital, Parel, Mumbai, India., Shah A; BJ Wadia Hospital for Children, Parel, Mumbai, India., Magar S; MGM Medical College, Aurangabad, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Tayade N; Department of Pediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India., Gandhi A; Unique Hospital, Solapur, India., Sowani A; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Kale S; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Jalan A; NIRMAN, Vashi, India., Solanki D; Mantra Child Neurology and Epilepsy Hospital, Bhavnagar, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Mane S; Department of Genetics, Yale School of Medicine, Yale Center for Genome Analysis, West Haven, CT, USA., Prabha CR; Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, India., Sheth F; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Joshi CG; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India., Joshi M; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India., Sheth J; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. Jayesh.sheth@frige.co.in.

المصدر: Human genomics [Hum Genomics] 2024 May 10; Vol. 18 (1), pp. 46. Date of Electronic Publication: 2024 May 10.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Lysosomal Storage Diseases*/genetics , Lysosomal Storage Diseases*/diagnosis , DNA Copy Number Variations*/genetics , Genetic Testing*/methods , High-Throughput Nucleotide Sequencing*/methods, Humans ; India ; Polymorphism, Single Nucleotide/genetics ; Female ; Male ; Molecular Probes/genetics

المؤلفون: McDool E; Sheffield Centre for Health and Related Research (SCHARR), University of Sheffield, Sheffield, England., Powell P; Sheffield Centre for Health and Related Research (SCHARR), University of Sheffield, Sheffield, England., Carlton J; Sheffield Centre for Health and Related Research (SCHARR), University of Sheffield, Sheffield, England. j.carlton@sheffield.ac.uk.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 04; Vol. 19 (1), pp. 252. Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Quality of Life* , Lysosomal Storage Diseases*/psychology, Humans ; Patient Reported Outcome Measures ; Surveys and Questionnaires

عنوان ترانسليتريتد: Bedeutung lysosomaler Speicherkrankheiten in der Rheumatologie.

المؤلفون: Aries C; Internationales Centrum für lysosomale Speicherkrankheiten, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, 20251, Hamburg, Deutschland., Rudolph C; Internationales Centrum für lysosomale Speicherkrankheiten, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, 20251, Hamburg, Deutschland., Muschol N; Internationales Centrum für lysosomale Speicherkrankheiten, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, 20251, Hamburg, Deutschland. muschol@uke.de.

المصدر: Zeitschrift fur Rheumatologie [Z Rheumatol] 2024 Jun; Vol. 83 (5), pp. 393-400. Date of Electronic Publication: 2024 May 27.

نوع المنشور: Journal Article; Review; English Abstract

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 0414162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-1250 (Electronic) Linking ISSN: 03401855 NLM ISO Abbreviation: Z Rheumatol Subsets: MEDLINE

مواضيع طبية MeSH: Lysosomal Storage Diseases*/diagnosis , Lysosomal Storage Diseases*/genetics , Rheumatic Diseases*/diagnosis , Rheumatic Diseases*/genetics , Rheumatic Diseases*/blood, Humans ; Rheumatology ; Diagnosis, Differential ; Evidence-Based Medicine

المؤلفون: Xia J; CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China., Wang H; CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.; Centre for Regenerative Medicine and Health, Hong Kong Institute of Science & Innovation, Chinese Academy of Sciences, Hong Kong SAR, China., Zhong Z; State Key Laboratory of Swine and Poultry Breeding Industry, South China Agricultural University, Guangzhou 510642, China.; Guangdong Provincial Key Laboratory of Protein Function and Regulation in Agricultural Organisms, College of Life Sciences, South China Agricultural University, Guangzhou 510642, China., Jiang J; State Key Laboratory of Swine and Poultry Breeding Industry, South China Agricultural University, Guangzhou 510642, China.; Guangdong Provincial Key Laboratory of Protein Function and Regulation in Agricultural Organisms, College of Life Sciences, South China Agricultural University, Guangzhou 510642, China.

المصدر: Cells [Cells] 2024 May 30; Vol. 13 (11). Date of Electronic Publication: 2024 May 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: Lysosomal Storage Diseases*/metabolism , Lysosomal Storage Diseases*/pathology , Lysosomal Storage Diseases*/genetics , Lysosomes*/metabolism , Phosphatidylinositol 3-Kinases*/metabolism , Signal Transduction* , TOR Serine-Threonine Kinases*/metabolism , Zebrafish*, Animals ; Humans ; Phosphoinositide-3 Kinase Inhibitors/pharmacology ; Zebrafish Proteins/metabolism ; Zebrafish Proteins/genetics ; Zebrafish Proteins/antagonists & inhibitors

المؤلفون: Chang S; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhan X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Liu Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Song H; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Gong Z; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Han L; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Maegawa GHB; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York.; Columbia University Medical Center, New York, New York., Gu X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhang H; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

المصدر: JAMA network open [JAMA Netw Open] 2024 May 01; Vol. 7 (5), pp. e2410754. Date of Electronic Publication: 2024 May 01.

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

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Neonatal Screening*/methods , Lysosomal Storage Diseases*/diagnosis , Lysosomal Storage Diseases*/epidemiology , Lysosomal Storage Diseases*/genetics, Humans ; Infant, Newborn ; China/epidemiology ; Male ; Female ; Prevalence ; Cohort Studies ; Tandem Mass Spectrometry

المؤلفون: Hay Mele B; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy., Rossetti F; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy., Cubellis MV; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.; Stazione Zoologica 'Anton Dohrn', Villa Comunale, 80121 Naples, Italy., Monticelli M; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy., Andreotti G; Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.

المصدر: Genes [Genes (Basel)] 2024 Feb 25; Vol. 15 (3). Date of Electronic Publication: 2024 Feb 25.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Drug Repositioning* , Lysosomal Storage Diseases*/drug therapy , Lysosomal Storage Diseases*/genetics, Humans ; Mutation ; Lysosomes/metabolism

المؤلفون: Chakraborty S; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Gupta AK; Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Meena JP; Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Seth R; Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. madhulikakabra@hotmail.com.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2024 Aug; Vol. 91 (8), pp. 830-838. Date of Electronic Publication: 2024 Apr 19.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hematopoietic Stem Cell Transplantation* , Lysosomal Storage Diseases*/therapy, Humans

المؤلفون: Huang G; Department of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA; Department of Orthopaedic Surgery, New York University Grossman School of Medicine, New York, NY, USA; Department of Joint Surgery, The First Affiliated Hospital of Sun Yat-sen University, Sun Yat-sen University, Guangzhou, China., Jian J; Department of Orthopaedic Surgery, New York University Grossman School of Medicine, New York, NY, USA., Liu CJ; Department of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA; Department of Orthopaedic Surgery, New York University Grossman School of Medicine, New York, NY, USA; Department of Cell Biology, New York University Grossman School of Medicine, New York, NY, USA. Electronic address: chuan-ju.liu@yale.edu.

المصدر: Cytokine & growth factor reviews [Cytokine Growth Factor Rev] 2024 Apr; Vol. 76, pp. 142-159. Date of Electronic Publication: 2023 Nov 11.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 9612306 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0305 (Electronic) Linking ISSN: 13596101 NLM ISO Abbreviation: Cytokine Growth Factor Rev Subsets: MEDLINE

مواضيع طبية MeSH: Intercellular Signaling Peptides and Proteins*/genetics , Intercellular Signaling Peptides and Proteins*/metabolism , Lysosomal Storage Diseases*, Humans ; Progranulins/genetics ; Neurons ; Molecular Chaperones/metabolism

المؤلفون: Servín Muñoz IV; Laboratorio de Neuroinmunobiología Molecular, Instituto de Investigación en Ciencias Biomédicas (IICB), Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Mexico., Ortuño-Sahagún D; Laboratorio de Neuroinmunobiología Molecular, Instituto de Investigación en Ciencias Biomédicas (IICB), Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Mexico., Griñán-Ferré C; Pharmacology Section, Department of Pharmacology, Toxicology and Therapeutic Chemistry, Faculty of Pharmacy and Food Sciences, Institute of Neuroscience, Universitat de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CiberNed), Network Center for Neurodegenerative Diseases, National Spanish Health Institute Carlos III, 28220 Madrid, Spain., Pallàs M; Pharmacology Section, Department of Pharmacology, Toxicology and Therapeutic Chemistry, Faculty of Pharmacy and Food Sciences, Institute of Neuroscience, Universitat de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CiberNed), Network Center for Neurodegenerative Diseases, National Spanish Health Institute Carlos III, 28220 Madrid, Spain., González-Castillo C; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Campus Guadalajara, Zapopan 45201, Mexico.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 29; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Journal Article; Review

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*/drug therapy , Lysosomal Storage Diseases*, Humans ; Proteostasis ; Protein Folding ; Proteolysis

المؤلفون: Li X; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; ZJU-Hangzhou Global Scientific and Technological Innovation Center, 311200, Hangzhou, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Xiang C; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Zhu S; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Guo J; Center of Cryo-Electron Microscopy, Zhejiang University, Hangzhou, Zhejiang, China., Liu C; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Wang A; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Cao J; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Lu Y; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; International Institutes of Medicine, The Fourth Affiliated Hospital of Zhejiang University School of Medicine, Yiwu, China.; Department of Cell Biology, and Department of General Surgery of Sir Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China., Neculai D; International Institutes of Medicine, The Fourth Affiliated Hospital of Zhejiang University School of Medicine, Yiwu, China.; Department of Cell Biology, and Department of General Surgery of Sir Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China., Xu P; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China.; ZJU-Hangzhou Global Scientific and Technological Innovation Center, 311200, Hangzhou, Zhejiang, China.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China., Feng XH; The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory of Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, 310058, Hangzhou, Zhejiang, China. fenglab@zju.edu.cn.; Center for Life Sciences, Shaoxing Institute, Zhejiang University, 321000, Shaoxing, Zhejiang, China. fenglab@zju.edu.cn.; Cancer Center, Zhejiang University, 310058, Hangzhou, Zhejiang, China. fenglab@zju.edu.cn.; The Second Affiliated Hospital, Zhejiang University, Hangzhou, Zhejiang, China. fenglab@zju.edu.cn.

المصدر: Nature communications [Nat Commun] 2024 Mar 22; Vol. 15 (1), pp. 2553. Date of Electronic Publication: 2024 Mar 22.

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: Lysosomal Storage Diseases*/genetics , Lysosomal Storage Diseases*/therapy , Lysosomal Storage Diseases*/metabolism, Mice ; Animals ; Humans ; Proteins/metabolism ; Brain/metabolism ; Mutation ; Lysosomes/metabolism ; Sorting Nexins/genetics ; Sorting Nexins/metabolism