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BICD2 missense mutations were identified in patients with severe muscular atrophy with arthrogryposis and asymptomatic individuals with subclinical features.
Data suggest that BICD1 (zeige BICD1 ELISA Kits) and BICD2 are highly expressed in the nervous system during development and are important in neuronal homeostasis. [REVIEW]
results reveal that dominant mutations in BICD2 hyperactivate DDB motility and suggest that an imbalance of minus versus plus end-directed microtubule motility in neurons may underlie spinal muscular atrophy.
These findings give further insight into the clinical and pathoanatomical consequences of BICD2 mutations.
several analyses of vesicular transport demonstrated that Rab6A (zeige RAB6A ELISA Kits) and BICD2 play crucial roles in Golgi tubule fusion with the endoplasmic reticulum (ER) in brefeldin A (BFA)-treated cells
the features of BICD2 spinal muscular atrophy, lower extremity predominant are consistent with a pathological process that preferentially affects lumbar lower motor neurons
Mutations in BICD2 cause congenital autosomal-dominant spinal muscular atrophy and massive Golgi fragmentation in affected cells.
BICD2 mutations cause non-5q linked spinal muscular atrophy in humans
Disease causing mutations resulting in amino acid substitutions in two binding regions of BICD2 increase its binding affinity for the cytoplasmic dynein (zeige DYNC1H1 ELISA Kits)-dynactin (zeige DCTN1 ELISA Kits) complex.
Data suggest that ASUN promotes perinuclear enrichment of dynein at G2/M that facilitates BICD2- and CENP-F-mediated anchoring of dynein to nuclear pore complexes.
Data suggest that binding of Lis1 (zeige PAFAH1B1 ELISA Kits) to DDB complex does not strongly disrupt processive motility along microtubules; motile DDB complex binds up to two Lis1 (zeige PAFAH1B1 ELISA Kits) dimers; mutational analysis suggested that Lis1 (zeige PAFAH1B1 ELISA Kits) binds directly to the dynein motor domains during DDB complex movement. (Lis1 (zeige PAFAH1B1 ELISA Kits) = lissencephaly 1 protein (zeige PAFAH1B1 ELISA Kits); DDB complex = dynein-dynactin (zeige DCTN1 ELISA Kits)-BicD2 complex; BicD2 = bicaudal D homolog 2 protein)
Data indicate that Bicaudal-D2 (BICD2)-deficient mice develop disrupted laminar organization of cerebral cortex and the cerebellum, pointing to impaired radial neuronal migration.
LIS1 (zeige PAFAH1B1 ELISA Kits) is required for dynein-mediated transport induced by membrane tethering of BICD2-N and LIS1 (zeige PAFAH1B1 ELISA Kits) contributes to dynein accumulation at microtubule plus ends and BICD2-positive cellular structures.
BICD2-N transgene increased lifespan in 'low copy' SOD1-G93A ALS transgenic mice.
This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described.
protein bicaudal D homolog 2
, bicaudal D homolog 2 (Drosophila)
, bicaudal D homolog 2
, protein bicaudal D homolog 2-like
, bic-D 2
, coiled-coil protein BICD2
, cytoskeleton-like bicaudal D protein homolog 2
, homolog of Drosophila bicaudal D
, bicaudal D protein