Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis
MS van der Knaap, I Boor, R Estévez - The Lancet Neurology, 2012 - thelancet.com
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by
chronic white matter oedema. The disease has an infantile onset and leads to slow …
chronic white matter oedema. The disease has an infantile onset and leads to slow …
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases
K Siva, G Covello, MA Denti - Nucleic acid therapeutics, 2014 - liebertpub.com
Alternative splicing is an important regulator of the transcriptome. However, mutations may
cause alteration of splicing patterns, which in turn leads to disease. During the past 10 …
cause alteration of splicing patterns, which in turn leads to disease. During the past 10 …
Structure-guided combination therapy to potently improve the function of mutant CFTRs
Available corrector drugs are unable to effectively rescue the folding defects of CFTR-ΔF508
(or CFTR-F508del), the most common disease-causing mutation of the cystic fibrosis …
(or CFTR-F508del), the most common disease-causing mutation of the cystic fibrosis …
Investigation of LRRC8-mediated volume-regulated anion currents in Xenopus oocytes
H Gaitán-Peñas, A Gradogna, L Laparra-Cuervo… - Biophysical journal, 2016 - cell.com
Volume-regulated anion channels (VRACs) play an important role in controlling cell volume
by opening upon cell swelling. Recent work has shown that heteromers of LRRC8A with …
by opening upon cell swelling. Recent work has shown that heteromers of LRRC8A with …
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism
T López-Hernández, MC Ridder, M Montolio… - The American Journal of …, 2011 - cell.com
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy
characterized by early-onset macrocephaly and delayed-onset neurological deterioration …
characterized by early-onset macrocephaly and delayed-onset neurological deterioration …
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl− channel auxiliary subunit
E Jeworutzki, T López-Hernández, X Capdevila-Nortes… - Neuron, 2012 - cell.com
Ion fluxes mediated by glial cells are required for several physiological processes such as
fluid homeostasis or the maintenance of low extracellular potassium during high neuronal …
fluid homeostasis or the maintenance of low extracellular potassium during high neuronal …
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts
T López-Hernández, S Sirisi… - Human molecular …, 2011 - academic.oup.com
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare
leukodystrophy caused by mutations in MLC1 or GLIALCAM. The GLIALCAM gene product …
leukodystrophy caused by mutations in MLC1 or GLIALCAM. The GLIALCAM gene product …
Leukodystrophies: classification, diagnosis, and treatment
DJ Costello, AF Eichler, FS Eichler - The neurologist, 2009 - journals.lww.com
Background: The leukodystrophies are a heterogeneous group of diseases, which primarily
affect white matter. Symptomatic patients are frequently misdiagnosed and the …
affect white matter. Symptomatic patients are frequently misdiagnosed and the …
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle
Objective Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic disease
characterized by infantile onset white matter edema and delayed onset neurological …
characterized by infantile onset white matter edema and delayed onset neurological …
Protein quality control at the plasma membrane
Cellular proteostasis (or protein homeostasis) depends on the timely folding and disposal of
conformationally damaged polypeptides during their life span at all subcellular locations …
conformationally damaged polypeptides during their life span at all subcellular locations …