Mutations Causing Intermediate Cystinosis

Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.

We examined four cardiomyopathy-causing mutations of troponin I that appear to disturb function by altering the distribution of thin filament states. The R193H (mouse) troponin I mutant had greater than normal actin-activated myosin-S1 ATPase activity in both the presence and absence of calcium. The rate of ATPase activity was the same as that of the wild-type at near-saturating concentrations ...

CTNS mutations in publicly-available human cystinosis cell lines

Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related s...

Cystinosis.

Human gene mutations causing infertility.

The identification of gene mutations causing infertility in humans remains noticeably deficient at present. Although most males and females with infertility display normal pubertal development, nearly all of the gene mutations in humans have been characterised in people with deficient puberty and subsequent infertility. Gene mutations are arbitrarily categorised into four different compartments...

Commentary Mutations causing muscle weakness

Transmission of signals from nerves to muscles is critical for life, so substantial safety factor mechanisms have evolved to ensure its success. Despite this, diseases can impair even this robust system. Characterizing these disease mechanisms greatly contributes to understanding this fundamental process. Neuromuscular transmission serves as a model for helping to understand neurotransmission t...