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, …
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 …
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 …
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‐…
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 …
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, …
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 …
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]), …
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, …
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–…
neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–…