CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx436
Abstract: Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by an unknown mechanism. In this study, we investigate the mutations p.R15L and p.G66V in comparison to wild-type CHCHD10 and the non-pathogenic variant p.P34S in… read more here.
Keywords: motoneuron disease; cause motoneuron; mutations r15l; chchd10 ... See more keywords
Motoneuronal Spinal Circuits in Degenerative Motoneuron Disease
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2020.00074
Abstract: The most evident phenotype of degenerative motoneuron disease is the loss of motor function which accompanies motoneuron death. In both amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), it is now clear that dysfunction… read more here.
Keywords: motoneuron; motoneuron disease; disease; motoneuronal spinal ... See more keywords
Sonic Hedgehog and TDP-43 Participate in the Spontaneous Locomotor Recovery in a Mouse Model of Spinal Motoneuron Disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Functional Morphology and Kinesiology"
DOI: 10.3390/jfmk2020011
Abstract: Several studies have attempted to repair the damaged spinal cord (SC) by stimulating neurogenesis or neuroplasticity, with limited success. Sonic hedgehog (Shh) is involved in neural induction and stem cell functioning, but recent findings also… read more here.
Keywords: motoneuron disease; motoneuron; tdp; sonic hedgehog ... See more keywords