Genomes and Genes
- Genes involved in leukodystrophies: a glance at glial functionsOdile Boespflug-Tanguy
GReD, INSERM U931 CNRS 6247, Faculte de Medecine, 28, Place Henri Dunant, 63000 Clermont Ferrand, France
Curr Neurol Neurosci Rep 8:217-29. 2008..It focuses particularly on the genes involved in the hypomyelinated and vacuolating leukodystrophies, which provide new insights into the understanding of myelin formation and WM homeostasis...
- Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli
INSERM Unité Mixte de Recherche 384, Faculte de Medecine, Clermont Ferrand, France
Am J Hum Genet 72:1544-50. 2003..The correlation we observed between the age at onset of the neurological deterioration and the severity of OF suggests a common pathophysiological pathway...
- Developmental splicing deregulation in leukodystrophies related to EIF2B mutationsAurélia Huyghe
Genetique, reproduction et développement GReD, Faculte de Medecine, Clermont Ferrand, France
PLoS ONE 7:e38264. 2012..These findings demonstrate a developmental deregulation of splicing events in glial cells that is related to abnormal production of HNRNP, in eIF2B-mutated brains...
- Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disordersLaetitia Horzinski
INSERM U931 CNRS 6247 Université Clermont, GReD, Clermont Ferrand, France
PLoS ONE 4:e8318. 2009..Our objective was to evaluate further the utility of this marker and to validate eIF2B GEF activity in a larger cohort as a specific diagnostic test for eIF2B-related disorders...
- Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri
INSERM UMR 1103, CNRS 6293, GReD, Medical School, Clermont Ferrand, France
Hum Mutat 34:1018-25. 2013....
- Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patientsAnne Fogli
INSERM UMR 384, Faculte de Medecine, 28 Place Henri Dunant, Clermont Ferrand, France
Eur J Hum Genet 12:561-6. 2004..This relevant cellular model may also be used to test the functional impact of different molecules on the GEF activity for future therapeutic strategies...
- Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT)Patricia Combes
INSERM, UMR, CNRS, GReD, Medical School, Clermont Ferrand, France
Ann Hum Genet 76:261-7. 2012..This observation strengthens the idea that caution must be taken when linking genetic variation to disease, especially in discrete phenotypes such as CAKUT...
- Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patientsLaetitia Horzinski
Faculte de Medecine, INSERM U931 CNRS 6247 Génétique, Reproduction et Développement, Clermont Ferrand, France
BMC Neurol 10:94. 2010..We tested the hypothesis that EIL from eIF2B-mutated patients also exhibit a heightened ER-stress response...
- CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutationsAnne Fogli
Laboratoire GReD UMR INSERM U931 CNRS 6247, Faculte de Medecine, Clermont Ferrand, France
PLoS ONE 7:e42688. 2012..We investigated the CSF glycome of eIF2B-mutated patients and age-matched normal individuals in order to further characterize the glycosylation defect for possible use as a biomarker...
- Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohortCatherine Sarret
Genetique, Reproduction et Développement, Unité Mixte de Recherche 931 Institut National de la Santé et de la Recherche médicale, Faculte de Medecine, Clermont Ferrand, France
J Neurol Sci 312:123-6. 2012....
- Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneEleonore Eymard-Pierre
INSERM UMR384 et Fédération de Génétique Humaine Auvergne, Faculte de Medecine, Clermont Ferrand, France
Am J Hum Genet 71:518-27. 2002..Further analyses will determine whether other hereditary disorders with primitive involvement of the central motor pathways, as pure forms of spastic paraplegia, could be due to alsin dysfunction...
- PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1Patricia Combes
INSERM U 384, Faculte de Medecine, Place Henri Dunant, 63000 Clermont Ferrand, France
Neurogenetics 7:31-7. 2006....
- Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjectsCatherine Vaurs-Barriere
Institut National de la Sante et de la Recherche Medicale, U931, GReD CNRS 6247, Faculte de Medecine, Lyon, France
Ann Neurol 65:114-8. 2009....
- Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndromePierre Labauge
Ann Neurol 60:485; author reply 485-6. 2006
- Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1Giorgia Montagna
Molecular Medicine, IRCCS Bambino Gesù Children s Hospital, Rome, Italy
Hum Mutat 27:292. 2006..No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein...
- Dominant form of vanishing white matter-like leukoencephalopathyPierre Labauge
Service de Neurologie, CHU Montpellier Nimes, Hopital Caremeau, Nimes, France
Ann Neurol 58:634-9. 2005....
- Insertion of mutant proteolipid protein results in missorting of myelin proteinsCatherine Vaurs-Barriere
National Institute of Health and Medical Research U384, Clermont Ferrand, France
Ann Neurol 54:769-80. 2003..We conclude that insertion of mutant PLP/DM20 with resulting aberrant distribution of other myelin proteins in peripheral nerve may constitute an important mechanism of dysmyelination in disorders associated with PLP mutations...
- Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18qShelly R Gunn
Department of Cellular and Structural Biology, The University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA
Am J Med Genet A 120:127-35. 2003....
- Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progressionPierre Labauge
Eur Neurol 58:59-61. 2007