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Disease on EC 2.7.7.13 - mannose-1-phosphate guanylyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Argininosuccinic Aciduria
Both the concentration and redox state of glutathione and ascorbate influence the sensitivity of arabidopsis to cadmium.
Chagas Disease
Trypanosoma cruzi Phosphomannomutase and Guanosine Diphosphate-Mannose Pyrophosphorylase Ligandability Assessment.
Cystic Fibrosis
Alginate biosynthetic enzymes in mucoid and nonmucoid Pseudomonas aeruginosa: overproduction of phosphomannose isomerase, phosphomannomutase, and GDP-mannose pyrophosphorylase by overexpression of the phosphomannose isomerase (pmi) gene.
Epilepsy, Generalized
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Epileptic Syndromes
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Eye Abnormalities
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan.
Hypersensitivity
A mutation in GDP-mannose pyrophosphorylase causes conditional hypersensitivity to ammonium, resulting in Arabidopsis root growth inhibition, altered ammonium metabolism, and hormone homeostasis.
GDP-mannose pyrophosphorylase is a genetic determinant of ammonium sensitivity in Arabidopsis thaliana.
Toward the mechanism of NH(4) (+) sensitivity mediated by Arabidopsis GDP-mannose pyrophosphorylase.
Infections
Ascorbic acid deficiency in arabidopsis induces constitutive priming that is dependent on hydrogen peroxide, salicylic acid, and the NPR1 gene.
Intellectual Disability
Expanding the phenotype of GMPPB mutations.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Leishmaniasis
GDP-Mannose Pyrophosphorylase: A Biologically Validated Target for Drug Development Against Leishmaniasis.
Insight into the self-association of key enzymes from pathogenic species.
mannose-1-phosphate guanylyltransferase deficiency
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Muscle Weakness
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Muscular Diseases
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Trouble at the junction: When myopathy and myasthenia overlap.
Muscular Dystrophies
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Integrative data mining highlights candidate genes for monogenic myopathies.
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Muscular Dystrophies, Limb-Girdle
Expanding the phenotype of GMPPB mutations.
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan.
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction.
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
Myasthenic Syndromes, Congenital
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Trouble at the junction: When myopathy and myasthenia overlap.
Myopathies, Structural, Congenital
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Parasitic Diseases
Insight into the self-association of key enzymes from pathogenic species.
Rhabdomyolysis
Expanding the phenotype of GMPPB mutations.
Sarcoglycanopathies
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Walker-Warburg Syndrome
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.