Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02077-7
Abstract: Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia,… read more here.
Keywords: pelizaeus merzbacher; pmld; merzbacher like; mutations snap29 ... See more keywords
Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus‐Merzbacher‐Like Disease
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1603978
Abstract: Background The unfolded protein response (UPR) includes three cascade pathways, which are responsible for the elimination of overload protein that is accumulated in the endoplasmic reticulum (ER). We hypothesize that mutations in connexin 47 (Cx47)… read more here.
Keywords: pelizaeus merzbacher; unfolded protein; protein response; merzbacher like ... See more keywords