Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

(2012) Melanie A. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

(2012) Ignacio Arroyo Carrera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

Diseases of glycosylation beyond classical congenital disorders of glycosylation

(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Unfolded protein response

(2012) Stewart Siyan Cao et al.   CURRENT BIOLOGY

A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

(2012) J. Chu et al.   Disease Models & Mechanisms

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

(2012) Gert Matthijs et al.   GLYCOCONJUGATE JOURNAL

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TheDrosophilaNeurally Altered Carbohydrate Mutant Has a Defective Golgi GDP-fucose Transporter

(2012) Christoph Geisler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

(2012) Belén Pérez et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Isoprenoid biosynthesis in bacterial pathogens

(2012) S. Heuston et al.   MICROBIOLOGY-SGM

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency

(2012) Abigail Cline et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

(2012) Tony Roscioli et al.   NATURE GENETICS

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS

RPTPζ/phosphacan is abnormally glycosylated in a model of muscle–eye–brain disease lacking functional POMGnT1

(2012) C.A. Dwyer et al.   NEUROSCIENCE

Diagnostic Exome Sequencing — Are We There Yet?

(2012) Heather C. Mefford   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

(2011) Hao Hu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

(2011) Muhammad Arshad Rafiq et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paroxysmal Nocturnal Hemoglobinuria from Bench to Bedside

(2011) Jeffrey J. Pu et al.   CTS-Clinical and Translational Science

Muscular dystrophies due to glycosylation defects

(2011) Francesco Muntoni et al.   CURRENT OPINION IN NEUROLOGY

Mammalian O-mannosylation: unsolved questions of structure/function

(2011) Stephanie H Stalnaker et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

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

(2011) Kenneth D Harrison et al.   EMBO JOURNAL

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

N-Acetylglucosamine Inhibits T-helper 1 (Th1)/T-helper 17 (Th17) Cell Responses and Treats Experimental Autoimmune Encephalomyelitis

(2011) Ani Grigorian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

(2011) Luisa Sturiale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2011) Vincent Cantagrel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Mannose-6-phosphate regulates destruction of lipid-linked oligosaccharides

(2011) Ningguo Gao et al.   MOLECULAR BIOLOGY OF THE CELL

Innovative therapy for Classic Galactosemia — Tale of two HTS

(2011) M. Tang et al.   MOLECULAR GENETICS AND METABOLISM

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

(2011) Anette Schneider et al.   NATURE MEDICINE

SRD5A3: A Surprising Role in Glycosylation

(2010) Ashlee R. Stiles et al.   CELL

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

(2010) Vincent Cantagrel et al.   CELL

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

(2010) Peter M Krawitz et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle

(2010) Martin Brockington et al.   PLoS One

O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding

(2010) T. Yoshida-Moriguchi et al.   SCIENCE

Metabolic manipulation of glycosylation disorders in humans and animal models

(2010) Hudson H. Freeze et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Muscular dystrophies due to glycosylation defects

(2008) Francesco Muntoni et al.   Neurotherapeutics