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An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Diseases of connexins expressed in myelinating glia.
Abrams CK. Abrams CK. Neurosci Lett. 2019 Mar 16;695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23. Neurosci Lett. 2019. PMID: 28545922 Review.
Mutations in GJC2 (Cx47), expressed in oligodendrocytes cause three disorders: a severe early onset dysmyelinating disorder, Pelizaeus-Merzbacher-Like disease (PMLD1 or HLD2); hereditary spastic paraplegia (SPG44), which has a milder phenotype and late …
Mutations in GJC2 (Cx47), expressed in oligodendrocytes cause three disorders: a severe early onset dysmyelinating disorder, Pelizaeus …
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Abrams CK. Abrams CK. Biomolecules. 2023 Apr 21;13(4):712. doi: 10.3390/biom13040712. Biomolecules. 2023. PMID: 37189458 Free PMC article. Review.
Mutations in a number of different CNS glial connexin genes cause human disease. Mutations in GJC2 lead to three distinct phenotypes, Pelizaeus Merzbacher like disease, hereditary spastic paraparesis (SPG44) and subclinical leukodystrophy....
Mutations in a number of different CNS glial connexin genes cause human disease. Mutations in GJC2 lead to three distinct phenotypes, Pel …
Mutations in cardiovascular connexin genes.
Molica F, Meens MJ, Morel S, Kwak BR. Molica F, et al. Biol Cell. 2014 Sep;106(9):269-93. doi: 10.1111/boc.201400038. Epub 2014 Jul 24. Biol Cell. 2014. PMID: 24966059 Review.
While mutations in Cx43 are mostly linked to oculodentodigital dysplasia, Cx47 mutations are associated with Pelizaeus-Merzbacher-like disease and lymphoedema. Cx40 mutations are principally linked to atrial fibrillation. ...
While mutations in Cx43 are mostly linked to oculodentodigital dysplasia, Cx47 mutations are associated with Pelizaeus-Merzbacher …
Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
Flores-Obando RE, Freidin MM, Hernández AI, Abrams CK. Flores-Obando RE, et al. Mol Cell Neurosci. 2022 May;120:103716. doi: 10.1016/j.mcn.2022.103716. Epub 2022 Mar 8. Mol Cell Neurosci. 2022. PMID: 35276347
Pelizaeus-Merzbacher-like disease type 1 (PMLD1) is a hypomyelinating disorder arising in patients with mutations in GJC2, encoding Connexin47 (Cx47). ...
Pelizaeus-Merzbacher-like disease type 1 (PMLD1) is a hypomyelinating disorder arising in patients with mutation …
Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y. Ji T, et al. Minerva Pediatr (Torino). 2023 Feb;75(1):32-38. doi: 10.23736/S2724-5276.16.04451-0. Epub 2016 Apr 8. Minerva Pediatr (Torino). 2023. PMID: 27057822
BACKGROUND: Clinical and genetic features were analyzed in five pedigrees with Pelizaeus-Merzbacher-like disease (PMLD) to provide bases for genetic counseling and prenatal diagnosis. ...
BACKGROUND: Clinical and genetic features were analyzed in five pedigrees with Pelizaeus-Merzbacher-like disease …
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E. Lossos A, et al. Brain. 2015 Sep;138(Pt 9):2521-36. doi: 10.1093/brain/awv204. Epub 2015 Jul 15. Brain. 2015. PMID: 26179919 Free PMC article.
A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Merzbacher-like disease. Both genes encode proteins associated with myelin. ...
A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Merzbacher-like disease …
Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
Javadikooshesh S, Zaimkohan H, Pourghorban P, Bahramim F, Ebadi N. Javadikooshesh S, et al. Iran J Med Sci. 2021 Nov;46(6):493-497. doi: 10.30476/IJMS.2021.87126.1736. Iran J Med Sci. 2021. PMID: 34840390 Free PMC article.
Pelizaeus-Merzbacher-Like Disease 1 is a genetic disorder affecting the central nervous system with an autosomal recessive inheritance pattern. ...Our findings led to the diagnosis of the proband's disease as Pelizaeus-Merzbacher-Like …
Pelizaeus-Merzbacher-Like Disease 1 is a genetic disorder affecting the central nervous system with an autosomal …
Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.
Li G, Eriani G, Wang ED, Zhou XL. Li G, et al. Sci China Life Sci. 2021 Oct;64(10):1645-1660. doi: 10.1007/s11427-020-1838-2. Epub 2021 Jan 28. Sci China Life Sci. 2021. PMID: 33515434
Y616Lfs*6 of RARS1 gene, which encodes two forms of human cytoplasmic arginyl-tRNA synthetase (hArgRS), are linked to Pelizaeus-Merzbacher-like disease (PMLD) with unclear pathogenesis. ...
Y616Lfs*6 of RARS1 gene, which encodes two forms of human cytoplasmic arginyl-tRNA synthetase (hArgRS), are linked to Pelizaeus-Me …
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. Owczarek-Lipska M, et al. Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270756
Hypomyelinating leukodystrophy is the main feature of Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD1). PMD- and PMLD1-affected patients display comparable neurological symptoms, including psychomotor developmental delay …
Hypomyelinating leukodystrophy is the main feature of Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like …
25 results