Search

PURPOSE: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide...

Bioinformatics carrier screening copy-number analysis genome sequencing (GS) spinal muscular atrophy (SMA) Base Sequence Child Child Preschool Humans Muscular Atrophy Spinal Survival of Motor Neuron 1 Protein

Muscle function is regulated by Ca2+, which mediates excitation-contraction coupling, energy metabolism, adaptation to exercise, and sarcolemmal repair. Several of these actions rely on Ca2+ delivery to the mitochondrial matrix...

Atrophy autosomal recessive Calcium Injury membrane Mitochondria mitochondrial disease muscle disease Adolescent Adult Animals Calcium Calcium Signaling Calcium-Binding Proteins Cation Transport Proteins Cell Membrane Cytosol Female FIBROBLASTS Homeostasis Humans Male Mice Knockout Mitochondria Mitochondrial Membrane Transport Proteins Models Biological Muscle Contraction Muscle Weakness Muscle Skeletal Muscular Atrophy Sarcolemma Tetanus Wasting Syndrome

Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral organs. Variations in the length of the polyglutamine...

Animals Disease Models Animal Endurance Training Enhancer Elements Genetic Humans Huntingtin Protein Huntington Disease Mice Muscular Atrophy Mutation NAV1.4 Voltage-Gated Sodium Channel Neurons Organelle Biogenesis Peptides Physical Conditioning Animal Trinucleotide Repeat Expansion

PURPOSE: To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease. METHODS: We identified a novel pathogenic variant in a patient by whole-exome...

metabolite transport Metabolomics mitochondrial respiratory chain deficiency neural toxicity spinal motor atrophy Adipates Apoptosis Cell Line DNA Mitochondrial Dicarboxylic Acid Transporters FIBROBLASTS Homozygote Humans Mitochondria Mitochondrial Membrane Transport Proteins Motor Neurons Muscular Atrophy Spinal Mutation Pipecolic Acids Quinolinic Acid

cancer-associated cachexia (CAC) metabolic failure skeletal muscle atrophy white adipose tissue (WAT) browning Adipose Tissue White Cachexia Carbohydrate Metabolism Endocrine System Humans Inflammation Lipid Metabolism Liver Muscular Atrophy Neoplasms

Female Humans Male Microtubule-Associated Proteins Muscular Atrophy Spinal

The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system...

cerebellum Motor Neurons Animals Zebrafish Humans Muscular Atrophy Spinal Disease Models Animal RNA-Binding Proteins Sequence Analysis RNA Mutation Exosomes Exosome Multienzyme Ribonuclease Complex

TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been...

cerebellum Developmental Disabilities Exome Genetic Testing Humans Infant Male Muscular Atrophy Spinal Nervous System Malformations Proteome Transcription Factors