Transient receptor potential (TRP) channels are a widely expressed family of 28
evolutionarily conserved cationic ion channels that operate as primary detectors of chemical …

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Mitochondria are key organelles for cellular metabolism, and regulate several processes
including cell death and macroautophagy/autophagy. Here, we show that mitochondrial …

The transient receptor potential cation channel mucolipin 1 (TRPML1) channel is a conduit
for lysosomal calcium efflux, and channel activity may be affected by lysosomal contents …

Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing
progressively severe intellectual disability, motor and speech deficits, retinal degeneration …

The Transient Receptor Potential (TRP) constitutes a family of channels subdivided into
seven subfamilies: Ankyrin (TRPA), Canonical (TRPC), Melastatin (TRPM), Mucolipin …

Mucolipidosis IV (MLIV) is an autosomal-recessive disease caused by loss-of-function
mutations in the MCOLN1 gene encoding the non-selective cationic lysosomal channel …

Mucolipidosis IV (MLIV) is an ultra-rare, recessively inherited lysosomal disorder resulting
from inactivating mutations in MCOLN1, the gene encoding the lysosomal cation channel …

Purpose: Neuronal ceroid lipofuscinoses comprise a genetically heterogeneous group of
mainly childhood-onset neurodegenerative lysosomal storage disorders. Progressive loss of …

Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe
neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused …