Results 21 to 30 of about 25,002 (280)

A Novel Retinal Gene Therapy Strategy for Batten Disease and Beyond

Proceedings, 2020
Batten Disease is a fatal lysosomal storage disorder characterized by cognitive and [...]
Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer   +7 more
doaj   +1 more source

Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria

Nature Communications, 2022
Lipids shed by pathogenic mycobacteria have been shown to inhibit NPC1, a lysosomal membrane protein deficient in most cases of a rate inherited lysosomal storage disorder Niemann-Pick disease type C (NPC).
Yuzhe Weng, Dawn Shepherd, Yi Liu, Nitya Krishnan, Brian D. Robertson, Nick Platt, Gerald Larrouy-Maumus, Frances M. Platt   +7 more
doaj   +1 more source

Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease

Cell Structure and Function, 2023
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B. Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin   +7 more
doaj   +1 more source

Lysosomal Storage Disorders and Malignancy [PDF]

Diseases, 2017
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population.
Pastores, GM, Hughes, DA
openaire   +4 more sources

Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct

Nature Communications, 2023
Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating the neurological ...
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia   +25 more
doaj   +1 more source

Haematopoietic development and immunological function in the absence of cathepsin D [PDF]

, 2007
Background: Cathepsin D is a well-characterized aspartic protease expressed ubiquitously in lysosomes. Cathepsin D deficiency is associated with a spectrum of pathologies leading ultimately to death.
Calogero Tulone, Chain Benjamin M, Grosvenor Nicholas, Saftig, P, Marco Novelli, Uchiyama Yasuo, Novelli Marco, Saftig Paul, Chain, BM, Benjamin M Chain, Paul Saftig, Tulone, C, Nicholas Grosvenor, Yasuo Uchiyama, Uchiyama, Y, Tulone Calogero, Novelli, M, Grosvenor, N   +17 more
core   +1 more source

Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

Molecular Therapy: Methods & Clinical Development, 2018
Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB [MPS IIIB]) is a lysosomal storage disorder primarily affecting the brain that is caused by a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intralysosomal accumulation ...
Don Clarke, Yewande Pearse, Shih-hsin Kan, Steven Q. Le, Valentina Sanghez, Jonathan D. Cooper, Patricia I. Dickson, Michelina Iacovino   +7 more
doaj   +1 more source

A block of autophagy in lysosomal storage disorders [PDF]

Human Molecular Genetics, 2007
Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficiency to cell death are poorly understood.
SETTEMBRE C, FRALDI A, JAHREISS L, SPAMPANATO C, VENTURI C, MEDINA SANABRIA, Diego Luis, DE PABLO R, TACCHETTI C, RUBINSZTEIN DC, A. BALLABIO   +9 more
openaire   +5 more sources

Mitochondrial Dysfunction in Lysosomal Storage Disorders [PDF]

Diseases, 2016
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes.
Mario De la Mata, David Cotán, Marina Villanueva-Paz, Isabel De Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila   +8 more
openaire   +4 more sources

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

Molecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul   +4 more
doaj   +1 more source