4.6 Review

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

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

Gert Matthijs et al.

GLYCOCONJUGATE JOURNAL (2013)

Article Genetics & Heredity

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

Katsiaryna Belaya et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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

M. Chiara Manzini et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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

Jennifer J. Johnston et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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

Peter M. Krawitz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

Francois Foulquier et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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

Melanie A. Jones et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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

Ignacio Arroyo Carrera et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Clinical Neurology

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

Rita Barone et al.

ANNALS OF NEUROLOGY (2012)

Review Biochemistry & Molecular Biology

Diseases of glycosylation beyond classical congenital disorders of glycosylation

Thierry Hennet

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2012)

Editorial Material Biochemistry & Molecular Biology

Unfolded protein response

Stewart Siyan Cao et al.

CURRENT BIOLOGY (2012)

Article Biochemistry & Molecular Biology

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

Sharita Timal et al.

HUMAN MOLECULAR GENETICS (2012)

Article Biochemistry & Molecular Biology

The Drosophila Neurally Altered Carbohydrate Mutant Has a Defective Golgi GDP-fucose Transporter

Christoph Geisler et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Genetics & Heredity

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C. Need et al.

JOURNAL OF MEDICAL GENETICS (2012)

Review Clinical Neurology

Neurology of inherited glycosylation disorders

Hudson H. Freeze et al.

LANCET NEUROLOGY (2012)

Review Endocrinology & Metabolism

Innovative therapy for Classic Galactosemia - Tale of two HTS

M. Tang et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Biochemistry & Molecular Biology

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

Anette Schneider et al.

NATURE MEDICINE (2012)

Review Microbiology

Isoprenoid biosynthesis in bacterial pathogens

Sinead Heuston et al.

MICROBIOLOGY-SGM (2012)

Editorial Material Medicine, General & Internal

Diagnostic Exome Sequencing - Are We There Yet?

Heather C. Mefford

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Multidisciplinary Sciences

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

Kei-ichiro Inamori et al.

SCIENCE (2012)

Article Cell Biology

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

Carol Jean Saunders et al.

SCIENCE TRANSLATIONAL MEDICINE (2012)

Article Genetics & Heredity

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Hao Hu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

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

Stephan Zuechner et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

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

Abel Gonzalez-Perez et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

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

Muhammad Arshad Rafiq et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Medicine, Research & Experimental

Paroxysmal Nocturnal Hemoglobinuria from Bench to Bedside

Jeffrey J. Pu et al.

CTS-CLINICAL AND TRANSLATIONAL SCIENCE (2011)

Article Clinical Neurology

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

Francesco Muntoni et al.

CURRENT OPINION IN NEUROLOGY (2011)

Article Biochemistry & Molecular Biology

Mammalian O-mannosylation: unsolved questions of structure/function

Stephanie H. Stalnaker et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2011)

Article Biochemistry & Molecular Biology

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

Kenneth D. Harrison et al.

EMBO JOURNAL (2011)

Article Genetics & Heredity

A New Face and New Challenges for Online Mendelian Inheritance in Man (OMIM®)

Joanna Amberger et al.

HUMAN MUTATION (2011)

Article Biochemistry & Molecular Biology

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

Ani Grigorian et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Endocrinology & Metabolism

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

Luisa Sturiale et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Article Endocrinology & Metabolism

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

Vincent Cantagrel et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Article Genetics & Heredity

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

Gal Maydan et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Cell Biology

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

Ningguo Gao et al.

MOLECULAR BIOLOGY OF THE CELL (2011)

Article Medicine, General & Internal

Myasthenic syndromes

M. E. Farrugia

JOURNAL OF THE ROYAL COLLEGE OF PHYSICIANS OF EDINBURGH (2011)

Editorial Material Biochemistry & Molecular Biology

SRD5A3: A Surprising Role in Glycosylation

Ashlee R. Stiles et al.

Article Biochemistry & Molecular Biology

Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard et al.

GENOME RESEARCH (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Multidisciplinary Sciences

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

Takako Yoshida-Moriguchi et al.

SCIENCE (2010)

Review Cell Biology

Metabolic manipulation of glycosylation disorders in humans and animal models

Hudson H. Freeze et al.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2010)

Editorial Material Biochemistry & Molecular Biology

CDG nomenclature: Time for a change!

Jaak Jaeken et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)

Article Biochemical Research Methods

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

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Review Clinical Neurology

Muscular dystrophies due to glycosylation defects

Francesco Muntoni et al.

NEUROTHERAPEUTICS (2008)

Article Medicine, General & Internal

Brief report: Targeted therapy for inherited GPI deficiency.

Antonio M. Almeida et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Biochemistry & Molecular Biology

COG8 deficiency causes new congenital disorder of glycosylation type IIh

Christian Kranz et al.

HUMAN MOLECULAR GENETICS (2007)

Article Biochemistry & Molecular Biology

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality

Christian Thiel et al.

MOLECULAR AND CELLULAR BIOLOGY (2006)

Article Biochemistry & Molecular Biology

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

Antonio M. Almeida et al.

NATURE MEDICINE (2006)

Article Biochemistry & Molecular Biology

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

C DeRossi et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Biochemistry & Molecular Biology

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

XH Wu et al.

NATURE MEDICINE (2004)

Article Biochemistry & Molecular Biology

PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER

Y Maeda et al.

EMBO JOURNAL (2001)

Article Biochemistry & Molecular Biology

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

Y Maeda et al.

EMBO JOURNAL (2000)