A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis

(2015) Caroline Kannengiesser et al.   EUROPEAN RESPIRATORY JOURNAL

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

(2015) Anne Guimier et al.   NATURE GENETICS

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

(2014) Eon Joo Park et al.   Cell Metabolism

Tankyrases: Structure, Function and Therapeutic Implications in Cancer

(2014) Teemu Haikarainen et al.   CURRENT PHARMACEUTICAL DESIGN

Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis

(2013) Rong Wen et al.   JOURNAL OF LIPID RESEARCH

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

(2013) Michelle T. Lieu et al.   MOLECULAR GENETICS AND METABOLISM

SRD5A3-CDG: A patient with a novel mutation

(2012) C.S. Kasapkara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Identification of Intercellular Cell Adhesion Molecule 1 (ICAM-1) as a Hypoglycosylation Marker in Congenital Disorders of Glycosylation Cells

(2012) Ping He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

(2011) Lina Zelinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

(2011) Stephan Züchner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nogo-B receptor is necessary for cellular dolichol biosynthesis and proteinN-glycosylation

(2011) Kenneth D Harrison et al.   EMBO JOURNAL

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene

(2011) Sandra Supraha Goreta et al.   Genetic Testing and Molecular Biomarkers

Life with too much polyprenol: polyprenol reductase deficiency

(2011) J.E.H. Gründahl et al.   MOLECULAR GENETICS AND METABOLISM

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

(2010) T. Dupre et al.   JOURNAL OF MEDICAL GENETICS

Identification of Roles for Peptide: N-Glycanase and Endo-β-N-Acetylglucosaminidase (Engase1p) during Protein N-Glycosylation in Human HepG2 Cells

(2010) Isabelle Chantret et al.   PLoS One

Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking

(2009) Kenneth D. Harrison et al.   Cell Metabolism

Hypermetabolism, Hyperphagia, and Reduced Adiposity in Tankyrase-Deficient Mice

(2009) T.-Y. J. Yeh et al.   DIABETES