نتایج جستجو برای: mucolipidosis

تعداد نتایج: 464  

2015
Rob U. Onyenwoke Jonathan Z. Sexton Feng Yan María Cristina Huertas Díaz Lawrence J. Forsberg Michael B. Major Jay E. Brenman

Autophagy is a complex pathway regulated by numerous signalling events that recycles macromolecules and may be perturbed in lysosomal storage disorders (LSDs). During autophagy, aberrant regulation of the lysosomal Ca(2+) efflux channel TRPML1 [transient receptor potential mucolipin 1 (MCOLN1)], also known as MCOLN1, is solely responsible for the human LSD mucolipidosis type IV (MLIV); however,...

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