A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy Academic Article uri icon

Overview

MeSH Major

  • Cardiomyopathy, Dilated
  • Heart
  • Muscle Proteins
  • SKP Cullin F-Box Protein Ligases

abstract

  • Our data suggest that FBXO32 is a candidate gene for recessive DCM. Acting as a cardiac ubiquitin ligase, mutated FBXO32 could perturb the degradation of target proteins in the UPS, the impairment of which has been observed in cardiomyopathy. Our work proposes that genes encoding other ubiquitin ligases could also be implicated in familial cardiomyopathy.

publication date

  • January 14, 2016

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4714499

Digital Object Identifier (DOI)

  • 10.1186/s12881-016-0267-5

PubMed ID

  • 26768247

Additional Document Info

start page

  • 3

volume

  • 17

number

  • 1