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Rare Heterozygous Loss-of-Function Variants in MCOLN1 Identified in Two Sporadic Patients with α-Synucleinopathies
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DOI：10.1002/mds.70469.png)
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Abstract
En 中文
Growing evidence links lysosomal dysfunction to parkinsonism. TRPML1, a lysosomal cation channel encoded by the MCOLN1 gene, is essential for lysosomal function. Biallelic loss-of-function variants in MCOLN1 cause mucolipidosis type IV. However, the role of heterozygous MCOLN1 variants remains unclear.
Keywords:
α-synucleinopathies
loss of function
MCOLN1
multiple system atrophy
Parkinson's disease
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7.6
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1.1W
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3.3W
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