ArticleHuman mutation2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
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In one paragraph
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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38citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% of its field
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG.Biomolecules · 2026Article
- Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation.The Journal of biological chemistry · 2026Article
- ALG1-mediated PDL1 glycosylation drives macrophage m2 polarization to promote bladder cancer progression.Cell death and differentiation · 2026Article
- High ALG1 Expression Is Correlated With Poor Prognosis and the Immune Microenvironment in Glioma.Journal of cellular and molecular medicine · 2026Article
- Article
- Mannose metabolic pathway senses glucose supply and regulates cell fate decisions.The Journal of biological chemistry · 2026Article
- From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Frontiers in epigenetics and epigenomics · 2026Review
- Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.Orphanet journal of rare diseases · 2025Article
- Asparagine-linked glycosylation protein 1 (ALG1) promotes aggressive phenotypes of lung adenocarcinoma cells, A549, via modulating N-linked glycosylation and ER-Stress.Glycoconjugate journal · 2025Article
- Review
- Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.American journal of medical genetics. Part A · 2025Article
- Article
- Normal transferrin glycosylation does not rule out severe ALG1 deficiency.JIMD reports · 2024Article
- Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases.Biomolecules · 2024Article
- Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.Molecular genetics and metabolism reports · 2023Article
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching.Journal of nanobiotechnology · 2023Article
- Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.International journal of molecular sciences · 2023Review
- Intracellular traffic and polarity in brain development.Frontiers in neuroscience · 2023Review
Corrections and comments
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Authors and funding
60 authors at 20 institutions in 11 countries.
Bobby G NgHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Sergey A ShiryaevHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Daisy RymenCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Erik A EklundSection of Experimental Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden.
Kimiyo RaymondBiochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota.
Martin KircherDepartment of Genome Sciences, University of Washington, Seattle, Washington.
Jose E AbdenurDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange, California.
Fusun AlehanDivision of Pediatric Neurology, Baskent University School of Medicine, Ankara, Turkey.
Alina T MidroDepartment of Clinical Genetics, Medical University, Bialystok, Poland.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, Washington.
Rita BaronePediatric Neurology Policlinico, University of Catania, Catania, Italy.
Gerard T BerryDepartment of Pediatrics, Harvard Medical School, Boston, Massachusetts.
Jane E BrumbaughStead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa.
Kati J BuckinghamDepartment of Pediatrics, University of Washington, Seattle, Washington.
Katie ClarksonGreenwood Genetic Center, Greenwood, South Carolina.
F Sessions ColeDivision of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Shawn O'ConnorDivision of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, Alabama.
Rudy Van CosterDepartment of Pediatrics, Division of Pediatric Neurology and Metabolism, University Hospital Gent, Gent, Belgium.
Laurie A DemmerClinical Genetics Program, Carolinas Health Care, Levine Childrens Hospital, Charlotte, North Carolina.
Luisa DiogoCentro de Desenvolvimento da Criança- Pediatric Hospital - CHUC, Coimbra, Portugal.
Alexander J FayDivision of Pediatric Neurology, Washington University, St. Louis, Missouri.
Can FiciciogluDepartment of Pediatrics, Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania Philadelphia, Pennsylvania.
Agata FiumaraCentre for Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
William A GahlNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.
Rebecca GanetzkyDepartment of Pediatrics, Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania Philadelphia, Pennsylvania.
Himanshu GoelHunter Genetics, Waratah, New South Wales, School of Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia.
Lyndsay A HarshmanStead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa.
Miao HeDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Jaak JaekenCenter for Metabolic Diseases, University Hospital of Leuven, Leuven, Belgium.
Philip M JamesDivision of Genetics & Metabolism, Phoenix Children's Hospital, Phoenix, Arizona.
Daniel KatzPediatric Neurology, Stormont-Vail Health Care, Topeka, Kansas.
Liesbeth KeldermansCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Maria KibaekDepartment of Pediatrics, Odense University Hospital, Odense, Denmark.
Andrew J KornbergDepartment of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.
Katherine LachlanHuman Genetics and Genomic Medicine, University of Southampton and Wessex Clinical Genetics Service, Southampton, United Kingdom.
Christina LamNational Human Genome Research Institute, NIH, Bethesda, Maryland.
Joy Yaplito-LeeDepartment of Metabolic Medicine, Royal Children's Hospital, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, Washington.
Heidi L PetersDepartment of Metabolic Medicine, Royal Children's Hospital, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Valerie RaceCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Luc RégalDepartment of Pediatric Neurology and Metabolism, University Hospital of Brussels, Brussels, Belgium.
Jeffrey S RushDepartment of Molecular and Cellular Biochemistry, College of Medicine, University of Kentucky, Lexington, Kentucky.
S Lane RutledgeDepartment of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, Washington.
Erika SoucheCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Susan E SparksCarolinas Healthcare System, Charlotte, North Carolina.
Pamela TrapaneStead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa.
Amarilis Sanchez-ValleDivision of Genetics and Metabolism, University of South Florida, Tampa, Florida.
Eric VilainDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Arve VølloDepartment of Pediatrics, Hospital of Ostfold N-1603 Fredrikstad, Norway.
Charles J WaechterDepartment of Molecular and Cellular Biochemistry, College of Medicine, University of Kentucky, Lexington, Kentucky.
Raymond Y WangDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange, California.
Lynne A WolfeNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.
Derek A WongDepartment of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Tim WoodGreenwood Genetic Center, Greenwood, South Carolina.
Amy C YangDepartment of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai, New York, New York.
University of Washington Center for Mendelian Genomics
Gert MatthijsCenter for Human Genetics, University of Leuven, Leuven, Belgium.
Hudson H FreezeHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
KU Leuven · BEUniversity of Washington · USDiscovery Institute · USUniversity of Iowa Stead Family Children’s Hospital · USWashington University in St. Louis · USChildren's Hospital of Philadelphia · USGreenwood Genetic Center · USNational Human Genome Research Institute · USRoyal Children's Hospital · AUUniversity of California, Los Angeles · USUniversity of Kentucky · USBaşkent University · TRCarolinas Healthcare System · USChildren's Hospital of Orange County · USErasmus Hospital · BEGhent University Hospital · BEHarvard University · USHospitais da Universidade de Coimbra · PTHoward Hughes Medical Institute · USHudsonAlpha Institute for Biotechnology · US
Funding
NHGRI/DIR Clinical Support ServicesZIDHG200352 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOLOMON, BENJAMIN · 2009 to 2025
$182.8MHuman Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MSouth-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9MMEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MNew Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7MCarbohydrate Deficient Glycoprotein Syndromes: Models and TherapyR01DK055615 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI FREEZE, HUDSON H. · 1999 to 2013
$4.4MIn Search of Mannolipid Intermediate FlippasesR01GM102129 · NIGMS · UNIVERSITY OF KENTUCKY · PI RUSH, JEFFREY STEWART, WAECHTER, CHARLES J · 2012 to 2015
$1.1MNHGRI NIH HHS U01 HG007301NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NIDDK NIH HHS R01 DK055615NIDDK NIH HHS R01 DK099551NIGMS NIH HHS R01 GM102129NIGMS NIH HHS T32 GM008638
Abstract
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation. ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families have been described with varying degrees of clinical severity. We identified and characterized 39 previously unreported cases of ALG1-CDG from 32 families and add 26 new mutations. Pathogenicity of each mutation was confirmed based on its inability to rescue impaired growth or hypoglycosylation of a standard biomarker in an alg1-deficient yeast strain. Using this approach we could not establish a rank order comparison of biomarker glycosylation and patient phenotype, but we identified mutations with a lethal outcome in the first two years of life. The recently identified protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2 , was seen in all 27 patients tested. Our study triples the number of known patients and expands the molecular and clinical correlates of this disorder.
Indexed as
MutationBiomarkersCongenital Disorders of GlycosylationFemaleGenes, LethalGlycosylationHumansMaleMannosyltransferasesPolysaccharidesSequence Analysis, DNASurvival AnalysisBiomarkerschitobiosyldiphosphodolichol beta-mannosyltransferaseMannosyltransferasesPolysaccharidesasparagine-linked glycosylation protein 1carbohydrate-deficient transferrinCDGxeno-tetrasaccharide
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