ArticleAmerican journal of human genetics2007
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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46 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.Journal of the peripheral nervous system : JPNS · 2026Article
- Age-dependent removal of Atg9-containing vesicle accumulations in motoneuron disease models by physical exercise.Translational neurodegeneration · 2025Article
- Plekhg5 controls the unconventional secretion of Sod1 by presynaptic secretory autophagy.Nature communications · 2024Article
- The RhoGEF protein Plekhg5 self-associates via its PH domain to regulate apical cell constriction.Molecular biology of the cell · 2024Article
- Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.Journal of neurology · 2024Article
- The causal relationship between immune cells and diabetic retinopathy: a Mendelian randomization study.Frontiers in immunology · 2024Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.Journal of molecular neuroscience : MN · 2021Article
- Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.Annals of clinical and translational neurology · 2021Article
- PLEKHG5 regulates autophagy, survival and MGMT expression in U251-MG glioblastoma cells.Scientific reports · 2020Article
- Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy.International journal of molecular sciences · 2020Review
- Do Genomic Factors Play a Role in Diabetic Retinopathy?Journal of clinical medicine · 2020Review
- Absence of Plekhg5 Results in Myelin Infoldings Corresponding to an Impaired Schwann Cell Autophagy, and a Reduced T-Cell Infiltration Into Peripheral Nerves.Frontiers in cellular neuroscience · 2020Article
- A novelAnnals of clinical and translational neurology · 2019Article
- The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research.Frontiers in neuroscience · 2019Review
- Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.Nature communications · 2017Article
- Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.Journal of Alzheimer's disease & Parkinsonism · 2017Article
- Clinical diversity caused by novel IGHMBP2 variants.Journal of human genetics · 2017Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lower motor neuron diseases (LMNDs) include a large spectrum of clinically and genetically heterogeneous disorders. Studying a large inbred African family, we recently described a novel autosomal recessive LMND variant characterized by childhood onset, generalized muscle involvement, and severe outcome, and we mapped the disease gene to a 3.9-cM interval on chromosome 1p36. We identified a homozygous missense mutation (c.1940 T-->C [p.647 Phe-->Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5. In transiently transfected HEK293 and MCF10A cell lines, we found that wild-type PLEKHG5 activated the nuclear factor kappa B (NF kappa B) signaling pathway and that both the stability and the intracellular location of mutant PLEKHG5 protein were altered, severely impairing the NF kappa B transduction pathway. Moreover, aggregates were observed in transiently transfected NSC34 murine motor neurons overexpressing the mutant PLEKHG5 protein. Both loss of PLEKHG5 function and aggregate formation may contribute to neurotoxicity in this novel form of LMND.
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