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Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A. Somashekar PH, et al. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28. Clin Genet. 2021. PMID: 33463720 Free PMC article. Review.
Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing loss, retinitis pigmen …
Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia ty
The RNA Exosome and Human Disease.
Fasken MB, Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH. Fasken MB, et al. Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1. Methods Mol Biol. 2020. PMID: 31768969 Review.
In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are related autosomal recessive, neurodegenerative diseases. ...
In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1 …
The RNA exosome and RNA exosome-linked disease.
Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB. Morton DJ, et al. RNA. 2018 Feb;24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1. RNA. 2018. PMID: 29093021 Free PMC article. Review.
Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal-recessive, neurodegenerative diseases. ...
Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B. Karakaya M, et al. Am J Med Genet A. 2019 Aug;179(8):1580-1584. doi: 10.1002/ajmg.a.61198. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102495 Review.
In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non-5q-SMAs are not seldom. Some of the non-5q-SMA phenotypes, such as pontocerebellar hypoplasia (PCH1), have been classified later as a different disease group due to dist …
In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non-5q-SMAs are not seldom. Some of the non-5q- …