Associated Papers
Cargo recognition of Nesprin-2 by the dynein adapter Bicaudal D2 for a nuclear positioning pathway that is important for neuronal migration.
Putta S et al.
Biorxiv : the Preprint Server for Biology, 2025
Molecular mechanism for recognition of the cargo adapter Rab6GTP by the dynein adapter BicD2.
Zhao X et al.
Life Science Alliance, 2024
Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
Yi J et al.
Plos Genetics, 2023
Neurogenic arthrogryposis and the power of phenotyping.
Rossor AM et al.
Neuromuscular Disorders : Nmd, 2021
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
Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo.
Will L et al.
Acta Neuropathologica Communications, 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
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
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Ravenscroft G et al.
Neuromuscular Disorders : Nmd, 2016
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Rudnik-Schöneborn S et al.
Muscle & Nerve, 2016
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
Structural basis for cargo binding and autoinhibition of Bicaudal-D1 by a parallel coiled-coil with homotypic registry.
Terawaki S et al.
Biochemical and Biophysical Research Communications, 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
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
Synofzik M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Peeters K et al.
American Journal of Human Genetics, 2013