Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]
, 2016 A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian +8 more
core +2 more sources
Hepatology, EarlyView., 2022 Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro +17 more
wiley +1 more source
Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]
, 2011 Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte +16 more
core +12 more sources
Biomarkers in Inflammatory Myopathies – An Expanded Definition [PDF]
, 2019 Biomarkers as parameters of pathophysiological conditions can be of outmost relevance for inflammatory myopathies. They are particularly warranted to inform about diagnostic, prognostic, and therapeutic questions.
Benveniste, Olivier +2 more
core +3 more sources
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
Progression of myopathology in Kearns-Sayre syndrome [PDF]
, 1992 We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers +11 more
core +1 more source
Journal of Behçet Uz Children's Hospital, 2023 Inflammatory myopathies are autoimmune disorders rarely seen in childhood. Normally high-dose corticosteroid is the current treatment for inflammatory myopathies. For a specific subgroup of patients with inflammatory myopathy with cytochrome oxidase (COX)
Gülden Diniz +6 more
doaj +1 more source
Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]
, 2015 Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria +18 more
core +1 more source
Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]
, 2006 Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in mitochondrial morphology.
Attardi, Giuseppe +11 more
core +2 more sources
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +7 more sources