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Article

Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2023

Krendel Mira, Leh Sabine, Garone Michael E, Edwards-Richards Alcia, Lin Jen-Jar, Brackman Damien, Knappskog Per, Mikhailov Alexei

Abstract excerpt

BACKGROUND: Pathogenic mutations in the non-muscle single-headed myosin, myosin 1E (Myo1e), are a rare cause of pediatric focal segmental glomerulosclerosis (FSGS). These mutations are biallelic, to date only reported as homozygous variants in consanguineous families. Myo1e regulates the actin cytoskeleton dynamics and cell adhesion, which are especially important for podocyte functions. METHODS: DNA and RNA...

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Share to Glomerular Basement Membrane
Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myosin Type I

Share to Nephritis, Hereditary

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Source

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Identifiers

PMID: 35723736
DOI: 10.1007/s00467-022-05634-x
PMCID: PMC10506584

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