نتایج جستجو برای: lysosomal disorders
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ABSTRACT First Person is a series of interviews with the first authors selection papers published in Journal Cell Science, helping researchers promote themselves alongside their papers. Felicity Sterling author on ‘ StARD9 novel lysosomal kinesin required for membrane tubulation, cholesterol transport and Purkinje cell survival’, JCS. conducted research described this article while PhD student ...
Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence certain lysosomal enzymes responsible for breakdown mucopolysaccharides, causing an accumulation glycosaminoglycans (GAGs) throughout body. type I (MPS I), also called Hurler syndrome, autosomal recessive storage disorder resulting from enzyme α-L-iduronidase. This report aims to present c...
In metazoans, lysosomes are the center for the degradation of macromolecules and play a key role in a variety of cellular processes, such as autophagy, exocytosis and membrane repair. Defects of lysosomal pathways are associated with lysosomal storage disorders and with several late onset neurodegenerative diseases. We recently discovered the CLEAR (Coordinated Lysosomal Expression and Regulati...
Lysosomal dysfunction plays a central role in the pathogenesis of several neurodegenerative disorders, including Parkinson's disease (PD). Several genes linked to genetic forms of PD, including leucine-rich repeat kinase 2 (LRRK2), functionally converge on the lysosomal system. While mutations in LRRK2 are commonly associated with autosomal-dominant PD, the physiological and pathological functi...
Lysosomal lipid accumulation, defects in membrane trafficking and altered Ca(2+) homoeostasis are common features in many lysosomal storage diseases. Mucolipin transient receptor potential channel 1 (TRPML1) is the principle Ca(2+) channel in the lysosome. Here we show that TRPML1-mediated lysosomal Ca(2+) release, measured using a genetically encoded Ca(2+) indicator (GCaMP3) attached directly...
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