Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs
Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.
Abidi I et al.
Molecules (basel, Switzerland), 2025
Hereditary spastic paraplegia HSP26: clinical and electrophysiological characteristics.
Yılmaz S et al.
Neurophysiologie Clinique = Clinical Neurophysiology, 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
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
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Harlalka GV et al.
Brain : a Journal of Neurology, 2013
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