2.4.1.141: N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
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For detailed information about N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase, go to the full flat file.
Word Map on EC 2.4.1.141
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Synonyms
Alg 14, Alg13, Alg13p, Alg13p/Alg14p, Alg14, chitobiosyl-PP-lipid synthase, CLS, N,N'-diacetylchitobiosylpyrophosphoryldolichol synthase, UDP-GlcNAc transferase, UDP-GlcNAc:dolichyl-pyrophosphoryl-GlcNAc GlcNAc transferase, UDP-GlcNAc:GlcNAc-P-P-Dol N-acetylglucosaminyltransferase, uridine diphosphoacetylglucosamine-dolichylacetylglucosamine pyrophosphate acetylglucosaminyltransferase
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2.4.1.141 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferaseAdvanced search results
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Disease on EC 2.4.1.141 - N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
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DISEASE 
TITLE OF PUBLICATION
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Adenocarcinoma
Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer.
Brain Diseases
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Brain Diseases
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.
Brain Diseases
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Brain Diseases
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Brain Diseases
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Brain Diseases
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.
Carcinoma
Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer.
Carcinoma, Squamous Cell
Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer.
Congenital Disorders of Glycosylation
ALG13 participates in epileptogenesis via regulation of GABAA receptors in mouse models.
Congenital Disorders of Glycosylation
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
Congenital Disorders of Glycosylation
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
ALG13 participates in epileptogenesis via regulation of GABAA receptors in mouse models.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
Epilepsy
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
Epilepsy
ALG13 participates in epileptogenesis via regulation of GABAA receptors in mouse models.
Epilepsy
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Genetic Diseases, Inborn
ALG13 participates in epileptogenesis via regulation of GABAA receptors in mouse models.
Intellectual Disability
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Intellectual Disability
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Intellectual Disability
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
Muscular Diseases
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
Myasthenic Syndromes, Congenital
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Myasthenic Syndromes, Congenital
Trouble at the junction: When myopathy and myasthenia overlap.
n-acetylglucosaminyldiphosphodolichol n-acetylglucosaminyltransferase deficiency
ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity.
n-acetylglucosaminyldiphosphodolichol n-acetylglucosaminyltransferase deficiency
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Neoplasms
Genomic Fabric Remodeling in Metastatic Clear Cell Renal Cell Carcinoma (ccRCC): A New Paradigm and Proposal for a Personalized Gene Therapy Approach.
Neoplasms
Phenotypic and genotypic features of a large kindred with a germline AIP variant.
Seizures
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
Seizures
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
Spasms, Infantile
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Spasms, Infantile
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.
Spasms, Infantile
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
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