Molecular and Cellular bases of Mucolipidosis Type IV: Mucolipin-1 and Lysosomal Function

 

Seminar

Molecular and Cellular bases of Mucolipidosis Type IV: Mucolipin-1 and Lysosomal Function

Dr. Silvia Vergarajauregui

Molecular and Cellular bases of Mucolipidosis Type IV: Mucolipin-1 and Lysosomal Function MLIV is an autosomal recessive lysosome storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities. MCOLN1, the gene mutated in MLIV patients, encodes a protein called mucolipin-1 that might function as a Ca2+ permeable channel and has been implicated in the biogenesis of lysosomes. This seminar will discuss current knowledge regarding mucolipin regulation and its role in membrane traffic and lysosomal function.