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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

author

Annie Laquerrière

Christine Bôle-Feysot

Férechté Encha-Razavi

Tania Attié-Bitach

Steven Gazal

1985 -

Nathalie Seta

Sophie Monnot

Catherine Fallet-Bianco

published in: American Journal of Human Genetics

date of publication: 2012-12-01

language: English

main subject: lissencephaly, cobblestone lissencephaly

Cites articles 51

Date

Title

Authors

2012-05

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Hans van Bokhoven, Eamonn Sheridan, Hülya Kayserili, Yung-Yao Lin, Christian Gilissen, Danijela Petković Ramadža, Joris A Veltman, Han G. Brunner, Jeroen van Reeuwijk, Rolph Pfundt, Lisenka Vissers, Tony Roscioli, Erik-Jan Kamsteeg, Ellen van Beusekom, Grazia M S Mancini, Michèl A A P Willemsen, Dirk J Lefeber
2012-05

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Francesco Muntoni, Sebahattin Çırak, William B. Dobyns, Steven A Moore, Kevin P Campbell, Katherine Mathews, David Venzke, Takako Yoshida-Moriguchi, Stanley F Nelson
2012-03-16

A developmental and genetic classification for malformations of cortical development: update 2012

William B. Dobyns, Renzo Guerrini
2012-03-14

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
2012-02-09

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

Dominique Bonneau, Férechté Encha-Razavi, Tania Attié-Bitach, Nathalie Seta, Dominique Figarella-Branger, Catherine Fallet-Bianco
2011-12

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Hans van Bokhoven, Adam Jozwiak, Martin Lammens, Jeroen van Reeuwijk
2011-10-10

Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection

Stefan Kunz, Kevin P Campbell, Takako Yoshida-Moriguchi
2011

Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction

Øivind Nilssen, Toril Fagerheim, Vigdis Brox
2011-03-11

Dystroglycanopathies: coming into focus
2011-03-01

A dystroglycan mutation associated with limb-girdle muscular dystrophy

Stefan Kunz, Kevin P Campbell, Takako Yoshida-Moriguchi
2011-02-09

Large induces functional glycans in an O-mannosylation dependent manner and targets GlcNAc terminals on alpha-dystroglycan
2011-07-02

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

Nathalie Seta, Brigitte Gilbert-Dussardier
2010-10-07

Enzymes of the mevalonate pathway of isoprenoid biosynthesis
2010-03-17

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities
2010-01-01

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding

Liping Yu, Stefan Kunz, Kevin P Campbell, Takako Yoshida-Moriguchi
2009-07

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Hisashi Ashida, Martin Lammens, Lambert P van den Heuvel, Frank W M B Preijers
2009-03

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

Nathalie Seta, Pascale Guicheney
2009-11-10

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy

Sonia Messina, Enrico Bertini, Filippo Maria Santorelli
2008-11-01

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Volker Straub, Haluk Topaloglu, Kathryn North
2008-07-18

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
2008-01-01

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Sue Brown, Cecilia Jimenez-Mallebrera
2007-09-25

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Chiara Aiello, Andrea Rossi, Paolo Broda, Federico Zara, Filippo Maria Santorelli
2007-10

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Martin Brockington, Francesco Muntoni, Cecilia Jimenez-Mallebrera, Haluk Topaloglu, Sue Brown, Kathryn North, Volker Straub
2007-09

PLINK: a tool set for whole-genome association and population-based linkage analyses

Shaun Purcell, Julian Maller, Mark Joseph Daly, Pamela Sklar, Benjamin M. Neale
2007-04-18

The non-mevalonate pathway of isoprenoid precursor biosynthesis

William Nigel Hunter
2007-10-01

Molecular heterogeneity in fetal forms of type II lissencephaly

Nathalie Seta
2006-12

Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan
2005-05-13

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Luciano Merlini, Hans Scheffer, Martijn A Huynen, Hans Van Bokhoven
2005-04-01

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Jürgen Winkler
2004-06-06

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies

Jan Dumański, Ichizo Nishino, Steven A Moore, Kevin P Campbell
2003-03-01

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Haluk Topaloglu, Volker Straub
2002-12-15

Functional requirements for fukutin-related protein in the Golgi apparatus

Martin Brockington, Francesco Muntoni, Sue Brown

Article - wd:Q36451494

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