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Table 2 Lysosomal storage disorder genes which have been genetically linked to Parkinson disease

From: Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson’s disease pathogenesis

GenePhenotypeProtein productPathwayReference
ARSBMaroteaux-Lamy syndromeArysulfatase BMucopolysaccharide metabolism[145, 363]
ASAH1Farber lipogranulomatosisN-acylsphingosine amidohydrolaseSphingolipid metabolism[173, 280]
CTSDNeuronal ceroid lipofuscinoses 10Cathepsin DSphingolipid metabolism[280, 315, 327]
GALCKrabbe diseaseGalactosylceramidaseSphingolipid metabolism[50, 292]
GBAGaucher diseaseGlucocerebosidaseSphingolipid metabolism[313, 344]
GRNaNeuronal ceroid lipofuscinoses 11ProgranulinUnknown lysosomal function[229, 319]
GUSBMucopolysaccharidosis VIIβ-glucuronidaseMucopolysaccharide metabolism[229, 342]
MCOLN1Mucolipidosis IVMucolipin-1Mucolipid metabolism[18, 55]
NAGLUSanfilippo syndrome Bα-N-acetylglucosminidaseMucopolysaccharide metabolism[365, 377]
NEU1Mucolipidosis I (Sialidosis)α-neuraminidaseMucolipid metabolism[33, 229]
NPC1/NPC2Niemann-Pick disease type CNPC intracellular cholesterol transporter 1/2Cholesterol trafficking[47, 171, 232]
SCARB2Action myoclonus-renal failure syndromeLysosomal integral membrane protein 2Lysosomal targeting of glucosylceramidase[24, 81]
SLC17A5Salla disease, infantile sialic acid storage disorderSialinMucolipid metabolism[280, 350]
SMDP1Niemann-Pick disease type A/BAcid sphingomyelinaseSphingolipid metabolism[106, 195]
  1. aHeterozygous mutations cause autosomal dominant frontotemporal lobar degeneration with ubiquitin-positive inclusions