ArticleAnnals of clinical and translational neurology2021
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- The Digital Occlusion and Electromyographic Analysis of a Child with Spinal Muscular Atrophy II and Cutis Marmorata Telangiectatica Congenita: A Report of Rare Case.International journal of clinical pediatric dentistry · 2026Article
- 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
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Authors and funding
9 authors at 4 institutions in 1 country.
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Abstract
The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases.
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