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Article

Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.

American journal of physiology. Renal physiology - 15 Oct 2013

Gasser David L, Winkler Cheryl A, Peng Min, An Ping, McKenzie Louise M, Kirk Gregory D, Shi Yuchen, Xie Letian X, Marbois Beth N, Clarke Catherine F, Kopp Jeffrey B

Abstract excerpt

Focal segmental glomerulosclerosis (FSGS) and collapsing glomerulopathy are common causes of nephrotic syndrome. Variants in >20 genes, including genes critical for mitochondrial function, have been associated with these podocyte diseases. One such gene, PDSS2, is required for synthesis of the decaprenyl tail of coenzyme Q10 (Q10) in humans. The mouse gene Pdss2 is mutated in the kd/kd mouse model of collapsing...

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Identifiers

PMID: 23926186
DOI: 10.1152/ajprenal.00143.2013
PMCID: PMC3798722

Genes

PDSS2

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Related research

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Research trail→

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Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.PMID 23926186Read ↗

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.Semantic proximity Read ↗

Deciphering the Genetic Basis of Focal Segmental Glomerulosclerosis Using Next-Generation SequencingSemantic proximity Read ↗

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Glomerular basement membrane ultrastructural changes in a patient with COQ2 glomerulopathy: A case report.Semantic proximity Read ↗

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.Semantic proximity Read ↗

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated alleleSemantic proximity Read ↗

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