| Molecular mechanism for recognition of the cargo adapter Rab6[GTP] by the dynein adapter BicD2. | Molecular mechanism for recognition of the cargo adapter Rab6(GTP) by the dynein adapter BicD2.
Zhao X, Quintremil S, Rodriguez Castro ED, Cui H, Moraga D, Wang T, Vallee RB, Solmaz SR., Free PMC Article | 05/13/2024 |
| m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression. | m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
Xie S, Kuang W, Guo M, Yang F, Jin H, Chen X, Yi L, Huo C, Xu Z, Lin A, Liu W, Mao J, Shu Q, Zhou T., Free PMC Article | 03/28/2024 |
| Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants. | Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.
Unger A, Roos A, Gangfuß A, Hentschel A, Gläser D, Krause K, Doering K, Schara-Schmidt U, Hoffjan S, Vorgerd M, Güttsches AK., Free PMC Article | 04/17/2023 |
| Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders. | Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
Yi J, Zhao X, Noell CR, Helmer P, Solmaz SR, Vallee RB., Free PMC Article | 03/22/2023 |
| In vitro characterization of the full-length human dynein-1 cargo adaptor BicD2. | In vitro characterization of the full-length human dynein-1 cargo adaptor BicD2.
Fagiewicz R, Crucifix C, Klos T, Deville C, Kieffer B, Nominé Y, Busselez J, Rossolillo P, Schmidt H. | 11/12/2022 |
| Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy. | Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy.
Luo K, Zheng C, Luo R, Cao X, Sun H, Ma H, Huang J, Yang X, Wu X, Li X., Free PMC Article | 09/17/2022 |
| Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice. | Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice.
Xiu J, Li J, Liu Z, Wei H, Zhu C, Han R, Liu Z, Zhu W, Shen Y, Xu Q., Free PMC Article | 07/30/2022 |
| circBICD2 targets miR-149-5p/IGF2BP1 axis to regulate oral squamous cell carcinoma progression. | circBICD2 targets miR-149-5p/IGF2BP1 axis to regulate oral squamous cell carcinoma progression.
Qiu L, Zheng L, Gan C, Deng W, Sun Y, Wang T. | 09/18/2021 |
| Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. | Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
Marchionni E, Agolini E, Mastromoro G, Guadagnolo D, Coppola G, Roggini M, Riminucci M, Novelli A, Giancotti A, Corsi A, Pizzuti A. | 08/14/2021 |
| Clinical spectrum of BICD2 mutations. | Clinical spectrum of BICD2 mutations.
Frasquet M, Camacho A, Vílchez R, Argente-Escrig H, Millet E, Vázquez-Costa JF, Silla R, Sánchez-Monteagudo A, Vílchez JJ, Espinós C, Lupo V, Sevilla T. | 06/26/2021 |
| Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation. | Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.
Tsai MH, Cheng HY, Nian FS, Liu C, Chao NH, Chiang KL, Chen SF, Tsai JW., Free PMC Article | 06/5/2021 |
| Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. | Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Rossor AM, Sleigh JN, Groves M, Muntoni F, Reilly MM, Hoogenraad CC, Schiavo G., Free PMC Article | 01/16/2021 |
| Hypoxia-induced changes in intragenic DNA methylation correlate with alternative splicing in breast cancer. | Hypoxia-induced changes in intragenic DNA methylation correlate with alternative splicing in breast cancer.
Pant D, Narayanan SP, Vijay N, Shukla S., Free PMC Article | 10/24/2020 |
| In this review, we identify the characteristics of disease-causing variants in BICD2 that distinguish them from benign variation and perform genotype-phenotype correlations for 99 BICD2 variant carriers from 35 families. [Review] | The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. | 08/1/2020 |
| A novel heterozygous mutation in the BICD2 gene that led to substitution of valine for leucine at residue 121 of BICD2 (p.L121V) was identified in an autosomal dominant inherited family. | Adult-onset SMALED2 due to a novel BICD2 mutation presenting with asymmetrical lower limb involvement.
Wan C, Wang Y, Zhou Q, Yu Y, Hong D, Zhu M. | 01/11/2020 |
| Results provide evidence that BICD2 is a capsid-associated dynein adaptor utilized by HIV-1 for transport to the nucleus. | HIV-1 Engages a Dynein-Dynactin-BICD2 Complex for Infection and Transport to the Nucleus.
Carnes SK, Zhou J, Aiken C., Free PMC Article | 09/7/2019 |
| BICD2 mutations appear rather unlikely to cause a phenotype of hereditary motor and sensory neuropathy and are a very rare cause of the hereditary spastic paraplegia phenotype | BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.
Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S. | 07/6/2019 |
| A family with three members affected by spinal muscular dystrophy 2, caused by the first in-frame deletion of BICD2 is described. | An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C. | 04/27/2019 |
| our findings contribute to the better understanding of spinal muscular atrophy-2 pathology by providing evidence for a common pathomechanism of BICD2 mutations that increase microtubule stability in motor neurons leading to increased axonal branching and to impaired neuromuscular junction development. | Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B. | 02/16/2019 |
| BICD2 facilitates infection by promoting the trafficking of viral cores to the nucleus, thereby promoting nuclear entry of the viral genome and infection | Bicaudal D2 facilitates the cytoplasmic trafficking and nuclear import of HIV-1 genomes during infection.
Dharan A, Opp S, Abdel-Rahim O, Keceli SK, Imam S, Diaz-Griffero F, Campbell EM., Free PMC Article | 07/7/2018 |
| BICD2 missense mutations were identified in patients with severe muscular atrophy with arthrogryposis and asymptomatic individuals with subclinical features. | Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B., Free PMC Article | 12/9/2017 |
| Data suggest that BICD1 and BICD2 are highly expressed in the nervous system during development and are important in neuronal homeostasis. [REVIEW] | Neuronal Roles of the Bicaudal D Family of Motor Adaptors.
Budzinska M, Wicher KB, Terenzio M. | 11/4/2017 |
| 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. | Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.
Huynh W, Vale RD., Free PMC Article | 10/7/2017 |
| These findings give further insight into the clinical and pathoanatomical consequences of BICD2 mutations. | Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K. | 07/1/2017 |
| several analyses of vesicular transport demonstrated that Rab6A and BICD2 play crucial roles in Golgi tubule fusion with the endoplasmic reticulum (ER) in brefeldin A (BFA)-treated cells | Reconstitution of the targeting of Rab6A to the Golgi apparatus in semi-intact HeLa cells: A role of BICD2 in stabilizing Rab6A on Golgi membranes and a concerted role of Rab6A/BICD2 interactions in Golgi-to-ER retrograde transport.
Matsuto M, Kano F, Murata M. | 12/5/2015 |