List of works - Belinda Cowling

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

scientific article published on 27 February 2019

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

scientific article published on 13 November 2017

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

scientific article published on 01 March 2019

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

scientific article published on 24 March 2022

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

scientific article

Centronuclear myopathies under attack: A plethora of therapeutic targets

scientific article published on 01 January 2018

Defective membrane remodeling in neuromuscular diseases: insights from animal models

scientific article

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

scientific article published on 07 October 2010

Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration

scientific article published on 29 September 2020

Diminuer l’expression de la dynamine 2

scientific article published in June 2014

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

scientific article published on October 2017

FHL3 binds MyoD and negatively regulates myotube formation

scientific article

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly

scientific article

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

scientific article published on April 2011

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

scientific article published on December 2008

Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy

scientific article published on 18 September 2013

Implanted Myoblast Survival Is Dependent on the Degree of Vascularization in a Novel Delayed Implantation/Prevascularization Tissue Engineering Model

scientific article published in January 2010

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

scientific article

Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo

scientific article published on 26 February 2013

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice

scientific article

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

scientific article

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

scientific article

Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy

article published in the Proceedings of the National Academy of Sciences of the United States of America

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

scientific article

Regulation of the transcriptional coactivator FHL2 licenses activation of the androgen receptor in castrate-resistant prostate cancer

scientific article

SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.

scientific article published on 29 July 2009

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

scientific article published on 14 February 2018

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

scientific article published in Nature Communications

The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle

scientific article

Translational medicine in neuromuscular disorders: from academia to industry

scientific article published on 24 October 2019

WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.

scientific article published on 15 September 2016

List of works by Belinda Cowling

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Centronuclear myopathies under attack: A plethora of therapeutic targets

Defective membrane remodeling in neuromuscular diseases: insights from animal models

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration

Diminuer l’expression de la dynamine 2

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

FHL3 binds MyoD and negatively regulates myotube formation

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy

Implanted Myoblast Survival Is Dependent on the Degree of Vascularization in a Novel Delayed Implantation/Prevascularization Tissue Engineering Model

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

Regulation of the transcriptional coactivator FHL2 licenses activation of the androgen receptor in castrate-resistant prostate cancer

SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle

Translational medicine in neuromuscular disorders: from academia to industry

WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.