Results 131 to 140 of about 29,691,692 (162)
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
Neuromuscular Disorders, 2021Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1. This encodes for mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular trafficking.
Rahul Phadke +2 more
exaly +3 more sources
Cation channel activity of mucolipin-1: the effect of calcium
Pflugers Archiv European Journal of Physiology, 2005Mucolipidosis type IV (MLIV) is a rare, neurogenetic disorder characterized by developmental abnormalities of the brain, and impaired neurological, ophthalmological, and gastric function. Considered a lysosomal disease, MLIV is characterized by the accumulation of large vacuoles in various cell types.
Horacio F Cantiello +1 more
exaly +3 more sources
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV
Biochemical and Biophysical Research Communications, 2004Most of the membrane trafficking phenomena including those involving the interactions between endosomes and lysosomes are regulated by changes in intracellular Ca2+ (Cai). These processes are disturbed in some types of mucolipidoses and other lysosomal storage disorders, such as mucolipidosis IV (MLIV), a neurological disorder that usually presents ...
Susan Slaugenhaupt +2 more
exaly +3 more sources
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization [PDF]
FEBS Letters, 2004 Mucolipin-1 is a 65-kDa membrane protein encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), a rare neurodegenerative lyso- somal storage disorder.
Eugenio Monti +2 more
exaly +2 more sources
Mucolipin‐2 Localizes to the Arf6‐Associated Pathway and Regulates Recycling of GPI‐APs
Traffic, 2007 In mammals, the mucolipin family includes three members mucolipin-1, mucolipin-2, and mucolipin-3 (MCOLN1-3). While mutations in MCOLN1 and MCOLN3 have been associated with mucolipidosis type IV and the varitint-waddler mouse phenotype, respectively ...
Rosa Puertollano
exaly +2 more sources
Mucolipin controls lysosome exocytosis in Dictyostelium [PDF]
Journal of Cell Science, 2012 Mucolipidosis type IV is a still poorly understood lysosomal storage disease caused by alterations in the mucolipin lysosomal calcium channel. In this study, we generated mucolipin knockout Dictyostelium cells, and observed that lysosome exocytosis was ...
Thierry Soldati, Pierre Cosson
exaly +2 more sources