Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019 We report an unusual case of hypertrophic cardiomyopathy identified by combined advanced post resuscitation care and molecular autopsy in a young sudden cardiac death victim. The present study shows the relevance of implementing emergency medicine, forensic and molecular autopsy to unravel the cause of SCD cases.
Anna Gaertner‐Rommel +12 more
wiley +1 more source
Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy. [PDF]
, 2017 Transverse (T)-tubules make-up a specialized network of tubulated muscle cell membranes involved in excitation-contraction coupling for power of contraction. Little is known about how T-tubules maintain highly organized structures and contacts throughout
Fujita, Naonobu +10 more
core +2 more sources
Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion
Behavioural Neurology, Volume 2019, Issue 1, 2019., 2019 Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau‐, TDP‐43‐, and FUS‐immunoreactive neuronal inclusions.
Mirjana Babić Leko +7 more
wiley +1 more source
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm [PDF]
, 2008 Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600 ...
Jungbluth, Heinz +3 more
core +1 more source
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Case Reports in Neurological Medicine, Volume 2016, Issue 1, 2016., 2016 Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene.
Gulden Diniz +8 more
wiley +1 more source
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
core +1 more source
Single visits to active wolf dens do not impact wolf pup recruitment or pack size
Wildlife Biology, Volume 2024, Issue 6, November 2024.Evaluating methods used to capture and mark neonates is necessary for ensuring research methods are ethical, follow best practices, and do not have long‐term unintended impacts on neonates or populations. We used a quasi‐experimental approach (reference versus treatment) to determine whether visiting wolf dens and marking wolf Canis lupus pups affects ...
Thomas D. Gable +3 more
wiley +1 more source
Increased autophagy accelerates colchicine-induced muscle toxicity [PDF]
, 2013 Colchicine treatment is associated with an autophagic vacuolar myopathy in human patients. The presumed mechanism of colchicine-induced myotoxicity is the destabilization of the microtubule system that leads to impaired autophagosome-lysosome fusion and ...
Ching, James K +4 more
core +2 more sources
Very Rare Complementation between Mitochondria Carrying Different Mitochondrial DNA Mutations Points to Intrinsic Genetic Autonomy of the Organelles in Cultured Human Cells [PDF]
, 2000 In the present work, a large scale investigation was done regarding the capacity of cultured human cell lines (carrying in homoplasmic form either the mitochondrial tRNALys A8344G mutation associated with the myoclonic epilepsy and ragged red fiber ...
Attardi, Giuseppe +3 more
core +1 more source
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. [PDF]
, 2011 International audienceAIMS: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine ...
Bevilacqua, J. A. +14 more
core +4 more sources