Associated Papers
Molecular mechanism for recognition of the cargo adapter Rab6GTP by the dynein adapter BicD2.
Zhao X et al.
Life Science Alliance, 2024
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 2024
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2.
Tumurkhuu M et al.
Intractable & Rare Diseases Research, 2021
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Rossor AM et al.
Acta Neuropathologica Communications, 2020
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.
Huynh W et al.
The Journal of Cell Biology, 2017
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M et al.
European Journal of Human Genetics : Ejhg, 2017
Probing the Energetics of Dynactin Filament Assembly and the Binding of Cargo Adaptor Proteins Using Molecular Dynamics Simulation and Electrostatics-Based Structural Modeling.
Zheng W
Biochemistry, 2017
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Rossor AM et al.
Brain : a Journal of Neurology, 2015
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM et al.
Brain : a Journal of Neurology, 2015
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Martinez-Carrera LA et al.
Frontiers in Neuroscience, 2015
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC et al.
American Journal of Human Genetics, 2013
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