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Academic Journal

New tools can propel research in lysosomal storage diseases.

  • Authors : Hertz E; Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Glasstetter LM

Subjects: Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/genetics ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/therapy ; Induced Pluripotent Stem Cells*

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Dec; Vol. 140 (4), pp. 107729. Date of Electronic Publication: 2023 Nov 03.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular Trojan Horses for treating lysosomal storage diseases.

  • Authors : Leal AF; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá, Colombia; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

Subjects: Blood-Brain Barrier*/Blood-Brain Barrier*/Blood-Brain Barrier*/metabolism ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/genetics ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/therapy

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107648. Date of Electronic Publication: 2023 Jun 30.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.

  • Authors : Platt FM; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, U.K.

Subjects: Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/genetics ; Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/metabolism ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/genetics

  • Source: Biochemical Society transactions [Biochem Soc Trans] 2023 Oct 31; Vol. 51 (5), pp. 1777-1787.Publisher: Portland Press On The Behalf Of The Biochemical Society Country of Publication: England NLM ID: 7506897 Publication Model: Print Cited Medium:

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Academic Journal

Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey.

  • Authors : Bulut FD; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey. Electronic address: .; Seydaoğlu G

Subjects: Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/diagnosis ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/therapy; Humans

  • Source: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2023 Oct; Vol. 30 (7), pp. 450-454. Date of Electronic Publication: 2023 Jun 17.Publisher: Elsevier Country of Publication: France NLM ID: 9421356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-664X

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Academic Journal

What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

  • Authors : Cordeiro RA; Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Arnaldo, 455, 3 andar, sala 3184, Cerqueira Cesar, Sao Paulo, SP, CEP 01246-903, Brazil. .; Rosa Neto NS

Subjects: Fabry Disease*/Fabry Disease*/Fabry Disease*/complications ; Fabry Disease*/Fabry Disease*/Fabry Disease*/diagnosis ; Gaucher Disease*/Gaucher Disease*/Gaucher Disease*/complications

  • Source: Advances in rheumatology (London, England) [Adv Rheumatol] 2024 Mar 22; Vol. 64 (1), pp. 22. Date of Electronic Publication: 2024 Mar 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101734172 Publication Model: Electronic Cited Medium: Internet ISSN: 2523-3106

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Academic Journal

Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders.

  • Authors : Wang A; MOE Laboratory of Biosystems Homeostasis and Protection, Zhejiang Provincial Key Laboratory for Cancer Molecular Cell Biology, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Institute of Intelligent Medicine, ZJU-Hangzhou Global Scientific and Technological Innovation Center, Hangzhou, China.

Subjects: Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/genetics ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/metabolism ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/pathology

  • Source: Nature cell biology [Nat Cell Biol] 2024 Feb; Vol. 26 (2), pp. 219-234. Date of Electronic Publication: 2024 Jan 22.Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Progranulinopathy: A diverse realm of disorders linked to progranulin imbalances.

  • Authors : 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

Subjects: Intercellular Signaling Peptides and Proteins*/Intercellular Signaling Peptides and Proteins*/Intercellular Signaling Peptides and Proteins*/genetics ; Intercellular Signaling Peptides and Proteins*/Intercellular Signaling Peptides and Proteins*/Intercellular Signaling Peptides and Proteins*/metabolism ; Lysosomal Storage Diseases*

  • Source: Cytokine & growth factor reviews [Cytokine Growth Factor Rev] 2024 Apr; Vol. 76, pp. 142-159. Date of Electronic Publication: 2023 Nov 11.Publisher: Elsevier Science Country of Publication: England NLM ID: 9612306 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease.

  • Authors : 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

Subjects: Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/Niemann-Pick Disease, Type C*/drug therapy ; Lysosomal Storage Diseases*; Humans

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 29; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

SNX8 enables lysosome reformation and reverses lysosomal storage disorder.

  • Authors : 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.

Subjects: Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/genetics ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/therapy ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/metabolism

  • Source: Nature communications [Nat Commun] 2024 Mar 22; Vol. 15 (1), pp. 2553. Date of Electronic Publication: 2024 Mar 22.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat.

  • Authors : Hay Mele B; Department of Biology, University of Napoli 'Federico II', Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.; Rossetti F

Subjects: Drug Repositioning* ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/drug therapy ; Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/Lysosomal Storage Diseases*/genetics

  • Source: Genes [Genes (Basel)] 2024 Feb 25; Vol. 15 (3). Date of Electronic Publication: 2024 Feb 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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  • 1-10 of  38,071 results for ""LYSOSOMAL storage diseases""