Literature DB >> 33230519

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.

Jonathan De Winter1, Danique Beijer2,3, Willem De Ridder1,2,3, Matthis Synofzik4,5, Stephan L Zuchner6, Philip Van Damme7,8,9, Werner Spileers10, Jonathan Baets1,2,3.   

Abstract

Entities:  

Year:  2021        PMID： 33230519     DOI： 10.1093/brain/awaa389

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  2 in total

1.  Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.

Authors:  Lea Leonardis; Marusa Skrjanec Pusenjak; Ales Maver; Helena Jaklic; Ana Ozura Brecko; Blaz Koritnik; Borut Peterlin; Karin Writzl
Journal:  Neurol Genet       Date:  2022-03-01

Review 2.  Hereditary Spastic Paraplegia: An Update.

Authors:  Arun Meyyazhagan; Antonio Orlacchio
Journal:  Int J Mol Sci       Date:  2022-02-01       Impact factor: 5.923
  2 in total

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