Results 41 to 50 of about 2,885,518 (281)

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Disease Models & Mechanisms, 2016
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates.
Heike Wolf, Markus Damme, Stijn Stroobants, Rudi D'Hooge, Hans Christian Beck, Irm Hermans-Borgmeyer, Renate Lüllmann-Rauch, Thomas Dierks, Torben Lübke   +8 more
doaj   +1 more source

Redefining GBA gene structure unveils the ability of Cap-independent, IRES-dependent gene regulation

Communications Biology, 2022
The cell type-specific expression of the glucocerebrosidase gene, associated with the lysosomal storage disorder called Gaucher disease, is linked to cis- and trans-regulatory transcriptional and translational mechanisms.
Keiko Miyoshi, Hiroko Hagita, Taigo Horiguchi, Ayako Tanimura, Takafumi Noma   +4 more
doaj   +1 more source

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

Acta Neuropathologica Communications, 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 ...
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber   +8 more
doaj   +1 more source

Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.

PLoS ONE, 2021
Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a pediatric neurodegenerative disorder characterized by progressive retinal and central nervous system deterioration during infancy.
Bailey Balouch, Halle Nagorsky, Truc Pham, James Thai LaGraff, Quynh Chu-LaGraff   +4 more
doaj   +1 more source

Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature

Turkish Journal of Hematology, 2010
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (
Gökhan Kabaçam, Gülşah Kabaçam, Pervin Topçuoğlu, Işınsu Kuzu, Mutlu Arat   +4 more
doaj   +3 more sources

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Mitlett, MS, Minett, MS, Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, PT, Mills, K, Wood, JN, Choi, L   +9 more
core   +1 more source

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Anirudh J. Ullal, David S. Millington, Deeksha S. Bali   +2 more
doaj   +1 more source

Cholesterol pathways affected by small molecules that decrease sterol levels in Niemann-Pick type C mutant cells. [PDF]

PLoS ONE, 2010
Niemann-Pick type C (NPC) disease is a genetically inherited multi-lipid storage disorder with impaired efflux of cholesterol from lysosomal storage organelles.The effect of screen-selected cholesterol lowering compounds on the major sterol pathways was ...
Madalina Rujoi, Nina H Pipalia, Frederick R Maxfield   +2 more
doaj   +1 more source

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Gegg, ME, Osellame, LD, Richard-Londt, A, Brandner, S, Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Duchen, MR, Schapira, AH   +9 more
core   +1 more source