The rapidly evolving view of lysosomal storage diseases

Author:

Parenti Giancarlo12ORCID,Medina Diego L12ORCID,Ballabio Andrea12345ORCID

Affiliation:

1. Telethon Institute of Genetics and Medicine Pozzuoli Italy

2. Department of Translational Medical Sciences Section of Pediatrics Federico II University Naples Italy

3. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

4. Jan and Dan Duncan Neurological Research Institute Texas Children Hospital Houston TX USA

5. SSM School for Advanced Studies Federico II University Naples Italy

Funder

Fondazione Telethon

H2020 European Research Council

National Institutes of Health

Associazione Italiana per la Ricerca sul Cancro

Associazione Italiana Rett

Publisher

EMBO

Subject

Molecular Medicine

Reference267 articles.

1. A Study to Assess the Long‐term Safety and Efficacy of ATB200/AT2221 in Adult Subjects with LOPD(2019) ClinicalTrials.Gov NCT04138277 (https://clinicaltrials.gov/ct2/show/NCT04138277) [DATASET]

2. Lysosomal metabolomics reveals V-ATPase- and mTOR-dependent regulation of amino acid efflux from lysosomes

3. Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews

4. Newborn Screening for Lysosomal Storage Disorders

5. Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases

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