From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

(2010) Eva Morava et al.   BRAIN

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

(2010) Vincent Cantagrel et al.   CELL

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

(2010) Kimia Kahrizi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expression of functional bacterial undecaprenyl pyrophosphate synthase in the yeast rer2  mutant and CHO cells

(2010) J. S. Rush et al.   GLYCOBIOLOGY

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structure and synthesis of polyisoprenoids used in N-glycosylation across the three domains of life

(2009) Meredith B. Jones et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Hypoglycosylation due to dolichol metabolism defects

(2009) Jonas Denecke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Polyisoprenoid alcohols—Recent results of structural studies

(2008) Karolina Skorupinska-Tudek et al.   CHEMICAL RECORD