Associated Papers
Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.
Neiswender H et al.
Elife, 2025
Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.
Neiswender H et al.
Biorxiv : the Preprint Server for Biology, 2025
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
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC et al.
Cold Spring Harbor Molecular Case Studies, 2018
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Martinez Carrera LA et al.
Human Molecular Genetics, 2018
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
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, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Neveling K et al.
American Journal of Human Genetics, 2013
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