Astrid Brull Selected Research

Glycogen Storage Disease Type V (McArdle's Disease)

12/2021	Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
1/2020	Absence of p.R50X Pygm read-through in McArdle disease cellular models.
1/2020	Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
1/2019	Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.
1/2018	Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.
5/2016	Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.
7/2015	McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
6/2015	Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.
5/2015	Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.
3/2015	The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

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Astrid Brull Research Topics

Disease

13	Glycogen Storage Disease Type V (McArdle's Disease) 12/2021 - 07/2012
2	Muscular Dystrophies (Muscular Dystrophy) 12/2020 - 01/2020
2	Laminopathies 12/2020 - 01/2018
2	Fibrosis (Cirrhosis) 01/2019 - 11/2012
2	Glycogen Storage Disease (Glycogenosis) 05/2016 - 07/2012
1	Hypertrophy 12/2020
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 01/2020
1	Disease Progression 01/2019
1	Inflammation (Inflammations) 01/2019
1	Lmna-Related Congenital Muscular Dystrophy 03/2018
1	Fatigue 12/2014
1	Contracture 12/2014
1	Liver Cirrhosis (Hepatic Cirrhosis) 11/2012
1	Inborn Genetic Diseases (Disease, Hereditary) 07/2012

Drug/Important Bio-Agent (IBA)

9	Glycogen Phosphorylase (Phosphorylase, Glycogen)IBA 12/2021 - 03/2015
8	GlycogenIBA 12/2021 - 05/2015
4	Protein Isoforms (Isoforms)IBA 12/2021 - 03/2015
4	EnzymesIBA 01/2020 - 12/2014
4	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 01/2018 - 07/2012
2	Glucose (Dextrose)FDA LinkGeneric 01/2018 - 05/2016
1	Proteins (Proteins, Gene)FDA Link 12/2020
1	LaminsIBA 12/2020
1	antibiotic G 418IBA 01/2020
1	amlexanox (Aphthasol)FDA Link 01/2020
1	atalurenIBA 01/2020
1	2- imino- 5- ((5- (2- nitrophenyl)furan- 2- yl)methylene)thiazolidin- 4- oneIBA 01/2020
1	Lamin Type A (Lamin A)IBA 01/2020
1	Messenger RNA (mRNA)IBA 03/2018
1	glucose-1-phosphateIBA 07/2015
1	Valproic Acid (Depakote)FDA LinkGeneric 05/2015
1	DroxidopaIBA 11/2012
1	Nonsense Codon (Nonsense Mutation)IBA 07/2012

Therapy/Procedure

4	Therapeutics 01/2020 - 11/2014