Results 11 to 20 of about 123,112 (260)

In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease. [PDF]

Nat Commun, 2021
In utero base editing has the potential to correct disease-causing mutations before the onset of pathology. Mucopolysaccharidosis type I (MPS-IH, Hurler syndrome) is a lysosomal storage disease (LSD) affecting multiple organs, often leading to early ...
Bose SK, White BM, Kashyap MV, Dave A, De Bie FR, Li H, Singh K, Menon P, Wang T, Teerdhala S, Swaminathan V, Hartman HA, Jayachandran S, Chandrasekaran P, Musunuru K, Jain R, Frank DB, Zoltick P, Peranteau WH.   +18 more
europepmc   +2 more sources

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease [PDF]

Human Molecular Genetics, 2015
Adaptor proteins (AP 1–5) are heterotetrameric complexes that facilitate specialized cargo sorting in vesicular-mediated trafficking. Mutations in AP5Z1, encoding a subunit of the AP-5 complex, have been reported to cause hereditary spastic paraplegia ...
Jennifer Hirst, James R. Edgar, Typhaine Esteves, Frédéric Darios, Marianna Madeo, Jaerak Chang, Ricardo H. Roda, Alexandra Dürr, Mathieu Anheim, Cinzia Gellera, Jun Li, Stephan Züchner, Caterina Mariotti, Giovanni Stévanin, Craig Blackstone, Michael C. Kruer, Margaret S. Robinson   +16 more
openalex   +2 more sources

Lysosomal storage disease overview. [PDF]

Ann Transl Med, 2018
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate.
Sun A.
europepmc   +2 more sources

Lysosomal storage diseases [PDF]

Journal of Veterinary and Animal Sciences, 2021
Lysosomes play a pivotal role in cellular processes through an active interplay of enzymes, lysosomal membrane proteins, and cytosolic proteins. Lysosomal storage diseases are a group of inherited and acquired disorders.
Smitha Rose Georgy
doaj   +1 more source

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. [PDF]

Nat Commun, 2018
The endolysosomal system sustains the reabsorptive activity of specialized epithelial cells. Lysosomal storage diseases such as nephropathic cystinosis cause a major dysfunction of epithelial cells lining the kidney tubule, resulting in massive losses of
Festa BP, Chen Z, Berquez M, Debaix H, Tokonami N, Prange JA, Hoek GV, Alessio C, Raimondi A, Nevo N, Giles RH, Devuyst O, Luciani A.   +12 more
europepmc   +2 more sources

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)? [PDF]

Acta Neuropathol Commun, 2018
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic ...
Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U.   +8 more
europepmc   +2 more sources

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

EMBO Molecular Medicine, 2022
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can develop.
A. Scotto Rosato, E. Krogsaeter, Dawid Jaślan, Carla Abrahamian, S. Montefusco, C. Soldati, Barbara Spix, Mariateresa Pizzo, G. Grieco, Julia Böck, A. Wyatt, D. Wünkhaus, Marcel Passon, M. Stieglitz, M. Keller, G. Hermey, S. Markmann, D. Gruber-Schoffnegger, S. Cotman, L. Johannes, Dennis Crusius, U. Boehm, C. Wahl-Schott, M. Biel, F. Bracher, E. De Leonibus, E. Polishchuk, D. Medina, Dominik Paquet, C. Grimm   +29 more
semanticscholar   +1 more source

Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. [PDF]

Nat Commun, 2017
Defective lysosomal acidification contributes to virtually all lysosomal storage disorders (LSDs) and to common neurodegenerative diseases like Alzheimer’s and Parkinson’s.
Bagh MB, Peng S, Chandra G, Zhang Z, Singh SP, Pattabiraman N, Liu A, Mukherjee AB.   +7 more
europepmc   +2 more sources

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Molecular Genetics and Metabolism Reports, 2020
Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we
Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani   +6 more
doaj   +1 more source

New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy

Orphanet Journal of Rare Diseases, 2021
Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman, Maria D. Ledesma, Calogera M. Simonaro   +2 more
doaj   +1 more source