Keyword

laforin

Description: Laforin is a carbohydrate-binding protein phosphatase involved in glycogen metabolism and associated with Lafora disease.

Primary topic: Glycogen Storage Diseases and Myoclonus (91%)

OpenAlex ID: keywords/laforin

Glycogen metabolism in humans

2016 · María M. Adeva-Andany, Manuel González-Lucán, et al. · BBA Clinical · 502

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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

1998 · Berge A. Minassian, Jeffrey R. Lee, et al. · Nature Genetics · 488

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy

2007 · David Vilchez, Susana Ros, et al. · Nature Neuroscience · 377

Mutations in NHLRC1 cause progressive myoclonus epilepsy

2003 · Elayne M Chan, Edwin J Young, et al. · Nature Genetics · 327

Glycogen accumulation and phase separation drives liver tumor initiation

2021 · Qingxu Liu, Jiaxin Li, et al. · Cell · 310

Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

2005 · Matthew S. Gentry, Carolyn A. Worby, et al. · Proceedings of the National Academy of Sciences · 238

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

2002 · S. Ganesh · Human Molecular Genetics · 236

Laforin, a Dual Specificity Phosphatase That Dephosphorylates Complex Carbohydrates

2006 · Carolyn A. Worby, Matthew S. Gentry, et al. · Journal of Biological Chemistry · 217

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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo

2007 · Vincent S. Tagliabracci, Julie Turnbull, et al. · Proceedings of the National Academy of Sciences · 202

The carbohydrate‐binding module family 20 – diversity, structure, and function

2009 · Camilla Christiansen, Maher Abou Hachem, et al. · FEBS Journal · 196

Lafora’s disease: towards a clinical, pathologic, and molecular synthesis

2001 · Berge A Minassian · Pediatric Neurology · 192

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

2010 · Carmen Aguado, Sovan Sarkar, et al. · Human Molecular Genetics · 184

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Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease

2014 · J. Duran, A. Gruart, et al. · Human Molecular Genetics · 181

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

2008 · Vincent S. Tagliabracci, Jean Marie Girard, et al. · Journal of Biological Chemistry · 171

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Lafora disease — from pathogenesis to treatment strategies

2018 · Felix Nitschke, Saija J. Ahonen, et al. · Nature Reviews Neurology · 167

A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen

2002 · Jianyong Wang, Jeanne A. Stuckey, et al. · Journal of Biological Chemistry · 167

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Malin Decreases Glycogen Accumulation by Promoting the Degradation of Protein Targeting to Glycogen (PTG)

2007 · Carolyn A. Worby, Matthew S. Gentry, et al. · Journal of Biological Chemistry · 161

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2006 · Totte Niittylä, Sylviane Comparot-Moss, et al. · Journal of Biological Chemistry · 159

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Lafora disease

2016 · Julie Turnbull, Erica Tiberia, et al. · Epileptic Disorders · 156

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

2005 · Hannes Lohi, Leonarda Ianzano, et al. · Human Molecular Genetics · 153

Starch-binding domains as CBM families–history, occurrence, structure, function and evolution

2019 · Štefan Janeček, Filip Mareček, et al. · Biotechnology Advances · 151

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

2011 · Olga Criado, Carmen Aguado, et al. · Human Molecular Genetics · 148

The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease

2007 · Matthew S. Gentry, Robert H. Dowen, et al. · The Journal of Cell Biology · 148

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

2000 · S. Ganesh, K. L. Agarwala, et al. · Human Molecular Genetics · 146

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Regulation of glycogen synthesis by the laforin–malin complex is modulated by the AMP-activated protein kinase pathway

2007 · Maria Carmen Solaz-Fuster, José Vicente Gimeno-Alcañiz, et al. · Human Molecular Genetics · 145

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Works count: 404

Citation count: 11,820