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Membrane Repair: Mechanisms and Pathophysiology

Physiological reviews, 2015-10, Vol.95 (4), p.1205-1240

2015

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Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

Nature communications, 2022-03, Vol.13 (1), p.1655-1655, Article 1655

2022

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Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function

Journal of cachexia, sarcopenia and muscle, 2019-12, Vol.10 (6), p.1228-1240

2019

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Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

Traffic (Copenhagen, Denmark), 2012-02, Vol.13 (2), p.185-194

2012

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Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair

The Journal of neuroscience, 2013-03, Vol.33 (12), p.5085-5094

2013

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Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Human molecular genetics, 2015-04, Vol.24 (8), p.2297-2307

2015

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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

American journal of human genetics, 2013-08, Vol.93 (2), p.384-389

2013

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Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor

Cardiovascular research, 2016-05, Vol.110 (2), p.178-187

2016

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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

American journal of human genetics, 2016-11, Vol.99 (5), p.1086-1105

2016

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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Neuromuscular disorders : NMD, 2020-04, Vol.30 (4), p.310-314

2020

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The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus

Frontiers in physiology, 2016-10, Vol.7, p.454-454

2016

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Alternate Splicing of Dysferlin C2A Confers Ca2+-Dependent and Ca2+-Independent Binding for Membrane Repair

Structure (London), 2014-01, Vol.22 (1), p.104-115

2014

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Human mutation, 2010-07, Vol.31 (7), p.E1544-E1550

2010

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TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.500-503

2016

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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3582

2023

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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

BMC evolutionary biology, 2010-07, Vol.10 (1), p.231, Article 231

2010

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Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Frontiers in neurology, 2023-01, Vol.14, p.1055639

2023

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Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

NPJ Genomic Medicine, 2017-03, Vol.2 (1), p.1-7, Article 4

2017

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Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Acta neuropathologica communications, 2023-01, Vol.11 (1), p.15-15, Article 15

2023

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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

HGG advances, 2022-10, Vol.3 (4), p.100125-100125, Article 100125

2022

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Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

American journal of human genetics, 2008-12, Vol.83 (6), p.714-724

2008

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Ca 2+ and mitochondrial ROS: Both hero and villain in membrane repair

Science signaling, 2017-09, Vol.10 (495)

Cooper, Sandra T

2017

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SpliceVault predicts the precise nature of variant-associated mis-splicing

Nature genetics, 2023-02, Vol.55 (2), p.324-332

2023

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Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

PloS one, 2014-08, Vol.9 (8), p.e104879

2014

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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned

JAMA neurology, 2015-12, Vol.72 (12), p.1424

2015

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Membrane Repair: Mechanisms and Pathophysiology

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus

Alternate Splicing of Dysferlin C2A Confers Ca2+-Dependent and Ca2+-Independent Binding for Membrane Repair

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Ca 2+ and mitochondrial ROS: Both hero and villain in membrane repair

SpliceVault predicts the precise nature of variant-associated mis-splicing

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned

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