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

VS Tagliabracci, J Turnbull, W Wang… - Proceedings of the …, 2007 - National Acad Sciences
Lafora disease is a progressive myoclonus epilepsy with onset typically in the second
decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, …

Expanded repeat in canine epilepsy

…, C Rusbridge, EM Chan, M Vervoort, J Turnbull… - Science, 2005 - science.org
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and
evidence for the existence of repeat-expansion disease outside humans. A canid-specific …

[HTML][HTML] Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

…, JM Girard, D Segvich, C Meyer, J Turnbull… - Journal of Biological …, 2008 - ASBMB
Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years
followed by neurodegeneration and death within 10 years. A characteristic is the widespread …

Lafora disease

J Turnbull, E Tiberia, P Striano, P Genton… - Epileptic …, 2016 - Wiley Online Library
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to
mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype‐…

[HTML][HTML] PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease

J Turnbull, AA DePaoli-Roach, X Zhao, MA Cortez… - PLoS …, 2011 - journals.plos.org
Lafora disease is the most common teenage-onset neurodegenerative disease, the main
teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest …

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

…, XC Zhao, EM Chan, J Turnbull… - Human molecular …, 2005 - academic.oup.com
Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously
present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, …

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

…, E Siintola, L Dvorakova, H Vlaskova, J Turnbull… - Brain, 2009 - academic.oup.com
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders
of childhood, are characterized by the accumulation of autofluorescent storage material …

Inhibiting glycogen synthesis prevents Lafora disease in a mouse model

BA Pederson, J Turnbull, JR Epp… - Annals of …, 2013 - Wiley Online Library
Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically
by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), …

Glycogen hyperphosphorylation underlies lafora body formation

J Turnbull, P Wang, JM Girard, A Ruggieri… - Annals of …, 2010 - Wiley Online Library
Objective: Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its
function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long, …

Early-onset Lafora body disease

J Turnbull, JM Girard, H Lohi, EM Chan, P Wang… - Brain, 2012 - academic.oup.com
The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant
neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–…