The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes

Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity. UBIAD1 was recently shown to synthesize menaquinon...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Nickerson, Michael L., Bosley, Allen D., Weiss, Jayne S., Kostiha, Brittany N., Hirota, Yoshihisa, Brandt, Wolfgang, Esposito, Dominic, Kinoshita, Shigeru, Wessjohann, Ludger, Morham, Scott G., Andresson, Thorkell, Kruth, Howard S., Okano, Toshio, Dean, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6444929/
https://ncbi.nlm.nih.gov/pubmed/23169578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22230
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