Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants

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Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants

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scientific article published on 06 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2018

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Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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P1476

Clinical diversity in patients ...... own UBIAD1 pathogenic variants

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P2093

Anna Sarosiak

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Anna Wawrzynowska

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Jacek P Szaflik

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Monika Udziela

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P2860

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes

Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis

Functional characterization of the vitamin K2 biosynthetic enzyme UBIAD1

IC3D classification of corneal dystrophies--edition 2

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial cell survival and development.

In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy.

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s00417-018-4075-9

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2127-2134

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scholarly article

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10.1007/S00417-018-4075-9

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English

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256

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Aneta Ścieżyńska

Monika Ołdak

Dominka Oziębło

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2018-08-06T00:00:00Z

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30084067

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6208719

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