A5058220578- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Adipose Tissue and Metabolism
- Child Welfare and Adoption
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Hereditary Neurological Disorders
- Nuclear Structure and Function
University of Minnesota Medical Center
2024-2025
University of Minnesota
2022-2024
Guy's and St Thomas' NHS Foundation Trust
2024
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had dystrophy but lacked complete genetic diagnoses and one an asymptomatic DMD duplication. Nanopore genomic long-read sequencing identified pathogenic in four individuals: SV DMD, LAMA2, two single nucleotide that alter...
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes key component of the cholesterol synthesis pathway. two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited Mendelian pattern. Statins inhibit activity generate their cholesterol-lowering effects known cause multiple types adverse on skeletal muscle, while...
Cockayne syndrome (CS) is an ultra-rare, autosomal recessive, premature aging disorder characterized by impaired growth, neurodevelopmental delays, neurodegeneration, polyneuropathy, and other multiorgan system complications. The anatomic aspects of CS neurodegeneration have long been known from postmortem examinations MRI studies, but the clinical features this are not well characterized, especially at later stages disease.
Abstract Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes key component of the cholesterol synthesis pathway. two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited Mendelian pattern. mechanism linking pathogenic skeletal dysfunction is unclear. We knocked down Hmgcr mouse myoblasts, hmgcr Drosophila,...
Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss muscle function throughout body. It second most common recessive in individuals European descent present all populations. Accurate tools exist for diagnosing SMA from genome sequencing data. However, there are no publicly available GRCh38-aligned data panel or exome assays which continue to be used as first line tests neuromuscular disorders. This deficiency...
Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals monoallelic stop loss variants affecting the same codon of HNRNPA1.