Search results for: Raffaella Violano

Items from 1 to 7 out of 7 results

article

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

Gilles Morin, Valérie Biancalana, Andoni Echaniz‐Laguna, Jean‐Baptiste Noury, more

Calcium (Ca²⁺) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca²⁺ entry, storage, and release. Store‐operated Ca²⁺ entry (SOCE) is a major mechanism controlling extracellular Ca²⁺ entry, and mainly relies on the accurate interplay between the Ca²⁺ sensor STIM1 and the Ca²⁺ channel ORAI1. Mutations in STIM1 or ORAI1 result...

article

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

Serena Pagliarani, Sabrina Lucchiari, Gianna Ulzi, Michela Ripolone, more

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease > 2018 > 1864 > 10 > 3407-3417

Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle weakness usually worsens to fixed myopathy and cardiac involvement may present in about half of the patients during disease. Management relies on careful follow-up of...

article

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Johann Böhm, Monica Bulla, Jill E. Urquhart, Edoardo Malfatti, more

Human Mutation > 38 > 4 > 426 - 438

Calcium (Ca²⁺) is a physiological key factor, and the precise modulation of free cytosolic Ca²⁺ levels regulates multiple cellular functions. Store‐operated Ca²⁺ entry (SOCE) is a major mechanism controlling Ca²⁺ homeostasis, and is mediated by the concerted activity of the Ca²⁺ sensor STIM1 and the Ca²⁺ channel ORAI1. Dominant gain‐of‐function mutations in STIM1 or ORAI1 cause tubular aggregate myopathy...

article

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

Sarah Pambianco, Matteo Giovarelli, Cristiana Perrotta, Silvia Zecchini, more

Cell Reports > 2016 > 17 > 11 > 3010-3023

Mitochondrial dysfunction occurs in many muscle degenerative disorders. Here, we demonstrate that mitochondrial biogenesis was impaired in limb-girdle muscular dystrophy (LGMD) 2D patients and mice and was associated with impaired OxPhos capacity. Two distinct approaches that modulated histones or peroxisome proliferator-activated receptor-gamma coactivator 1 α (PGC-1α) acetylation exerted equivalent...

article

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Qiang Gang, Conceição Bettencourt, Pedro M. Machado, Stefen Brady, more

Neurobiology of Aging > 2016 > 47 > C > 218.e1-218.e9

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome...

article

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Qiang Gang, Conceicao Bettencourt, Pedro M. Machado, Zoe Fox, more

Neurobiology of Aging > 2015 > 36 > 4 > 1766.e1-1766.e3

A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in “translocase of outer mitochondrial membrane 40” (TOMM40) was less frequent in patients with sporadic inclusion body myositis (sIBM) compared with controls and associated with a later age of sIBM symptom onset, suggesting a protective effect of this...

article

Glycogen storage disease type III: A novel Agl knockout mouse model

Serena Pagliarani, Sabrina Lucchiari, Gianna Ulzi, Raffaella Violano, more

BBA - Molecular Basis of Disease > 2014 > 1842 > 11 > 2318-2328

Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Progressive skeletal myopathy, neuropathy, and/or cardiomyopathy become prominent in adults. Currently, there is no available cure. We generated...

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Search results for: Raffaella Violano

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Glycogen storage disease type III: A novel Agl knockout mouse model

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