Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus … -
BA Minassian, JR Lee, JA Herbrick, J Huizenga, S … - Nature Genetics, 1998 - nature.com
... characteristic polyglucosan inclusions called Lafora bodies 4 ... might be a generalized
storage disease 6,9 ... putative protein product, named laforin, resulting in LD ...

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein … -
S Ganesh, N Tsurutani, T Suzuki, K Ueda, KL … - Human Molecular Genetics, 2003 - Oxford Univ Press
... The Lafora disease gene product laforin interacts with HIRIP5, a
phylogenetically conserved protein containing a NifU-like domain. ...

Identification of new and common mutations in the EPM2A gene in Lafora disease -
BA Minassian, L Ianzano, AV Delgado-Escueta, SW … - Neurology, 2000 - AAN Enterprises
... Escueta, and K. Yamakawa The Lafora disease gene product laforin interacts with
HIRIP5, a phylogenetically conserved protein containing a NifU-like domain Hum. ...

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration … -
S Ganesh, AV Delgado-Escueta, T Sakamoto, MR Avila … - Human Molecular Genetics, 2002 - Oxford Univ Press
... Escueta, and K. Yamakawa The Lafora disease gene product laforin interacts with
HIRIP5, a phylogenetically conserved protein containing a NifU-like domain Hum. ...

… of a novel protein interacting with laforin, the epm2a progressive myoclonus epilepsy gene product -
L Ianzano, XC Zhao, BA Minassian, SW Scherer - Genomics, 2003 - Elsevier
... cause Lafora disease. We hypothesized that EPM2AIP1 might be involved since our
functional data have shown it interacts with the EPM2A gene product laforin. ...

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy -
BA Minassian, L Ianzano, M Meloche, E Andermann, … - Neurology, 2000 - AAN Enterprises
... Escueta, and K. Yamakawa The Lafora disease gene product laforin interacts with
HIRIP5, a phylogenetically conserved protein containing a NifU-like domain Hum. ...

Progressive myoclonus epilepsy with polyglucosans (Lafora disease) Evidence for a third locus -
EM Chan, S Omer, M Ahmed, LR Bridges, C Bennett, … - Neurology, 2004 - AAN Enterprises
... The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically
conserved protein containing a NifU-like domain. Hum Mol Genet. ...

Regional and Developmental Expression of Epm2a Gene and Its Evolutionary Conservation -
S Ganesh, KL Agarwala, K Amano, T Suzuki, AV … - Biochemical and Biophysical Research Communications, 2001 - ingentaconnect.com
... Lafora's disease, an autosomal recessive progressive myoclonus epilepsy ... mutations
in the EPM2A gene encoding a dual-specificity phosphatase (DSP) named laforin. ...

A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen -
J Wang, JA Stuckey, MJ Wishart, JE Dixon - Journal of Biological Chemistry, 2002 - ASBMB
... Escueta, and K. Yamakawa The Lafora disease gene product laforin interacts with
HIRIP5, a phylogenetically conserved protein containing a NifU-like domain Hum. ...

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory … -
ME Fernandez-Sanchez, O Criado-Garcia, KE Heath, B … - Human Molecular Genetics, 2003 - Oxford Univ Press
... the identification of a second gene responsible for ... the pathways through which both
laforin and malin ... the cellular physiology that results in lafora disease. ...