Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
The results suggest that at least three distinct mammalian genes function within a convergent post-translational processing pathway during the biosynthesis of dystroglycan, and that abnormal dystoglycan–ligand interactions underlie the pathogenic mechanism of muscular dystrophy with brain abnormalities.
The Smith-Lemli-Opitz syndrome
The recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
It is concluded that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1, and a stop codon in exon 11, predicted to truncate the protein at amino acid 179, which segregates with the disease.
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
- D. Morton, K. Strauss, D. Robinson, E. Puffenberger, R. Kelley
- Medicine, BiologyPediatrics
- 1 June 2002
OBJECTIVE To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). METHODS Family histories and molecular testing for the Y393N mutation of the E1alpha subunit of the…
Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis
A disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism is suggested.
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies
This study combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering to elucidate the pathophysiology underlying the cardiomyopathy of Barth syndrome, a mitochondrial disorder caused by mutation of the gene encoding tafazzin (TAZ).
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome
The results indicate that defects in sterol-Δ8-isomerase cause CDPX2 and suggest a role for sterols in bone development and a functional significance of two missense alleles.
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
The data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24, a recently defined family of flavin adenine dinucleotide (FAD)-dependent oxidoreductases.