List of works - Patrizia Sabatelli

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

scientific article

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

scientific article published on 26 July 2005

At the nucleus of the problem: nuclear proteins and disease

scientific article

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

scientific article published on 22 September 2016

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

scientific article

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

scientific article

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

article

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

scientific article

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition

scientific article (publication date: 31 December 2003)

EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance

scientific article published on 09 September 2013

Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling

scientific article

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

scientific article

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

scientific article published in November 2003

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

scientific article

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy ⬇️

scientific article published on December 1, 1997

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

scientific article

Laminopathies: a chromatin affair

scientific article published on 18 July 2006

Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

scientific article published in May 2005

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

scientific article

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

scientific article

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

article published in 2001

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

scientific article published on 2 October 2012

Properties of Ca(2+) transport in mitochondria of Drosophila melanogaster

scientific article published on 7 October 2011

The epg5 knockout zebrafish line: a model to study Vici syndrome

scientific article published on 17 March 2019

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

scientific article published on 01 January 2006

List of works by Patrizia Sabatelli

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

At the nucleus of the problem: nuclear proteins and disease

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition

EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance

Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy ⬇️

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Laminopathies: a chromatin affair

Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

Properties of Ca(2+) transport in mitochondria of Drosophila melanogaster

The epg5 knockout zebrafish line: a model to study Vici syndrome

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains