Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.
Abidi I et al.
Molecules (basel, Switzerland), 2025
Conformational dynamics and membrane insertion mechanism of B4GALNT1 in ganglioside synthesis.
Welland JWJ et al.
Nature Communications, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG26
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Inamori KI et al.
Frontiers in Neuroscience, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs.
Sen N et al.
Briefings in Bioinformatics, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease.
Hong JM et al.
Journal of Clinical Neurology (seoul, Korea), 2021
Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.
Bhuiyan RH et al.
Neuroscience, 2019
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L et al.
Journal of Inherited Metabolic Disease, 2015
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Boukhris A et al.
American Journal of Human Genetics, 2013
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