Literature DB >> 33454747

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.

Rauan Kaiyrzhanov1, Saskia Wortmann2,3,4,5, Taryn Reid6, Mohammadreza Dehghani7, Mohammad Yahya Vahidi Mehrjardi8, Bader Alhaddad2, Matias Wagner2, Marcus Deschauer9, Isabell Cordts9, J Pedro Fernandez-Murray6, Veronika Treffer2,3, Zahra Metanat10, Alan Pitman11, Henry Houlden1, Thomas Meitinger2,3, Christopher Carroll11, Christopher R McMaster6, Reza Maroofian1.   

Abstract

Entities:  

Year:  2021        PMID： 33454747     DOI： 10.1093/brain/awaa442

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


× No keyword cloud information.
  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

2.  Pcyt2 deficiency causes age-dependant development of nonalcoholic steatohepatitis and insulin resistance that could be attenuated with phosphoethanolamine.

Authors:  Sophie Grapentine; Rathnesh K Singh; Poulami Basu; Sugashan Sivanesan; Gabriela Mattos; Oreoluwa Oresajo; Jasmine Cheema; Wendwesen Demeke; Vernon W Dolinsky; Marica Bakovic
Journal:  Sci Rep       Date:  2022-01-20       Impact factor: 4.379
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.