The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most
common subtype of Usher syndrome and is characterized by hearing loss and retinitis …

Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for
hearing loss in man and mouse. Whirlin is known to be essential for the elongation process …

Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH
is clinically and genetically heterogeneous with at least 11 chromosomal loci assigned to the …

Mitochondria integrate metabolic networks for maintaining bioenergetic requirements.
Deregulation of mitochondrial metabolic networks can lead to mitochondrial dysfunction …

The protein substrates of sirtuin 5-regulated lysine malonylation (Kmal) remain unknown,
hindering its functional analysis. In this study, we carried out proteomic screening, which …

Several mouse models for mitochondrial fatty acid β-oxidation (FAO) defects have been
developed. So far, these models have contributed little to our current understanding of the …

Fatty acid β-oxidation may occur in both mitochondria and peroxisomes. While peroxisomes
oxidize specific carboxylic acids such as very long-chain fatty acids, branched-chain fatty …

Imbalance in the supply and utilization of fatty acids (FA) is thought to contribute to
intrahepatic lipid (IHL) accumulation in obesity. The aim of this study was to determine the …

Background: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural
hearing loss with or without vestibular dysfunction, displays a high degree of clinical and …

Inherited disorders of acyl-CoA metabolism, such as defects in amino acid metabolism and
fatty acid oxidation can present with severe clinical symptoms either neonatally or later in …