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Page 1
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 …
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 GJC2 lead to three distinct phenotypes, Pelizaeus Merzbacher like disease, hereditary spastic paraparesis (SPG44) and subclinical leukodystrophy....
Mutations in GJC2 lead to three distinct phenotypes, Pelizaeus Merzbacher like disease, hereditary spastic parap …
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 …
Inherited white matter disorders: Hypomyelination (myelin disorders).
Perrier S, Gauquelin L, Bernard G. Perrier S, et al. Handb Clin Neurol. 2024;204:197-223. doi: 10.1016/B978-0-323-99209-1.00014-4. Handb Clin Neurol. 2024. PMID: 39322379 Review.
This chapter discusses the most common hypomyelinating leukodystrophies, including X-linked Pelizaeus-Merzbacher disease and other PLP1-related disorders, autosomal recessive Pelizaeus-Merzbacher-like disease, and POLR3-related leukodystrophy. PLP1-rel …
This chapter discusses the most common hypomyelinating leukodystrophies, including X-linked Pelizaeus-Merzbacher disease and other PLP1-rela …
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. We describe three siblings of a consanguineous family manifesting the typical infanti …
A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Merzbacher-like disease …
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. Among these mutations, c.5A>G is the most extensively reported …
Y616Lfs*6 of RARS1 gene, which encodes two forms of human cytoplasmic arginyl-tRNA synthetase (hArgRS), are linked to Pelizaeus-Me …
22 results