Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.
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ABSTRACT:
SUBMITTER: Masih S
PROVIDER: S-EPMC8215966 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
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Homozygous Missense Variation in <i>PNPLA8</i> Causes Prenatal-Onset Severe Neurodegeneration.
Masih Suzena S Moirangthem Amita A Phadke Shubha R SR
Molecular syndromology 20210319 3
The patatin-like protein family plays an important role in various biological functions including lipid homeostasis, cellular growth, and signaling. Conserved across species, the patatin domain is shared by all 9 members of the PNPLA family without redundancy in the coding sequences. The defective function of <i>PNPLA2</i>, <i>PNPLA6</i>, and <i>PNPLA9</i> are known to cause mitochondrial-related neurodegeneration. Recently, <i>PNPLA8</i> has been associated with mitochondrial myopathy and poor ...[more]
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