Search results for: Michela Ripolone

Items from 1 to 11 out of 11 results

article

Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments

Giacomo P. Comi, Erik H. Niks, Claudia M. Cinnante, Hermien E. Kan, more

Introduction/Aims Becker muscular dystrophy (BMD) is characterized by variable disease severity and progression, prompting the identification of biomarkers for clinical trials. We used data from an ongoing phase II study to provide a comprehensive characterization of a cohort of patients with BMD, and to assess correlations between histological and magnetic resonance imaging (MRI) markers with muscle...

article

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

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

Human Mutation > 41 > 1 > 17 - 37

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

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Jacob A. Ross, Yotam Levy, Michela Ripolone, Justin S. Kolb, more

Acta Neuropathologica > 2019 > 138 > 3 > 477-495

Nemaline myopathy (NM) is a skeletal muscle disorder caused by mutations in genes that are generally involved in muscle contraction, in particular those related to the structure and/or regulation of the thin filament. Many pathogenic aspects of this disease remain largely unclear. Here, we report novel pathological defects in skeletal muscle fibres of mouse models and patients with NM: irregular spacing...

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

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Michela Ripolone, Valeria Lucchini, Dario Ronchi, Gigliola Fagiolari, more

Journal of Neuroscience Research > 96 > 9 > 1576 - 1585

Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. Ataxia type 1 (SCA1) is caused by the expansion of a CAG trinucleotide repeat in the SCA1 gene resulting in the atypical extension of a polyglutamine (polyQ) tract within the ataxin‐1 protein. Our main objective...

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...

article

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease

Andrea Ciammola, Jenny Sassone, Monica Sciacco, Niccolò E. Mencacci, more

Movement Disorders > 26 > 1 > 130 - 137

Mitochondrial defects that affect cellular energy metabolism have long been implicated in the etiology of Huntington's disease (HD). Indeed, several studies have found defects in the mitochondrial functions of the central nervous system and peripheral tissues of HD patients. In this study, we investigated the in vivo oxidative metabolism of exercising muscle in HD patients. Ventilatory and cardiometabolic...

Filter options

Publication date

Last 3 years (1)

Close

Date range setting

Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.

From:

To:
Set your own date range

Keywords

Data set

Elsevier (5)
Wiley (5)
Springer (1)

Journal

Human Mutation (2)
Neurobiology of Aging (2)
Acta Neuropathologica (1)
BBA - Molecular Basis of Disease (1)
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (1)
Cell Reports (1)
Journal of Neuroscience Research (1)
Movement Disorders (1)
Muscle & Nerve (1)

INFONA - science communication portal

Search results for: Michela Ripolone

Add recipient

Sending message cancelled

Are you sure you want to cancel sending this message?

Send message

Filter options

Publication date

Date range setting

Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.

Keywords

Data set

Journal

Reporting an error / abuse

Sending the report failed

Accessibility options