Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of
argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a …

The genetic architecture of complex traits underlying physiology and disease in most organisms
remains elusive. We still know little about the number of genes that underlie these traits, …

The CCAAT/enhancer-binding protein β (C/EBPβ) is required for adipocyte differentiation
and maturation. We have studied the role of the transcription factor, C/EBPβ, in the …

Citrin is the liver-type mitochondrial aspartate-glutamate carrier that participates in urea,
protein, and nucleotide biosynthetic pathways by supplying aspartate from mitochondria to the …

Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by
mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. …

Exome sequencing of two sisters with congenital cataracts, short stature, and white matter
changes identified compound heterozygous variants in the PISD gene, encoding the …

Objective The ketogenic diet (KD) is a proven treatment for drug‐resistant (DR) seizures in
children and adolescents. However, the relationship between seizure control and the most …

We used patient dermal fibroblasts to characterize the mitochondrial abnormalities associated
with the dilated cardiomyopathy with ataxia syndrome (DCMA) and to study the effect of …

Congenic strains continue to be a fundamental resource for dissecting the genetic basis of
complex traits. Traditionally, genetic variants (QTLs) that account for phenotypic variation in a …

Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial
protein with an unknown function, cause mitochondrial DNA depletion syndrome. We …