ArticleActa neuropathologica communications2020
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 57 citations in OpenAlex.
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Cargo Recognition of Nesprin-2 by the Dynein Adapter Bicaudal D2 for a Nuclear Positioning Pathway That Is Important for Brain Development.Biochemistry · 2026Article
- Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice.Human molecular genetics · 2025Article
- Neuroaxonal Degeneration as a Converging Mechanism in Motor Neuron Diseases (MNDs): Molecular Insights into RNA Dysregulation and Emerging Therapeutic Targets.International journal of molecular sciences · 2025Review
- The node of Ranvier influences theiScience · 2024Article
- Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.Genes · 2024Review
- Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.Acta neuropathologica · 2024Article
- Molecular mechanism for recognition of the cargo adapter Rab6Life science alliance · 2024Article
- Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.Journal of neuromuscular diseases · 2024Review
- A Structural Model for the Core Nup358-BicD2 Interface.Biomolecules · 2023Article
- Microscopic and Biochemical Hallmarks ofInternational journal of molecular sciences · 2023Article
- Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.PLoS genetics · 2023Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Reduced levels of ALS geneFrontiers in neuroscience · 2023Article
- Dissection, in vivo imaging and analysis of the mouse epitrochleoanconeus muscle.Journal of anatomy · 2022Article
- Adipocyte-specific deletion of HuR induces spontaneous cardiac hypertrophy and fibrosis.American journal of physiology. Heart and circulatory physiology · 2021Article
- A novelIntractable & rare diseases research · 2021Article
- Methodological advances for studying gamma motor neurons.Current opinion in physiology · 2021Article
- Neuromuscular disease: 2021 update.Free neuropathology · 2021Article
- Humans: the ultimate animal models.Journal of neurology, neurosurgery, and psychiatry · 2020Review
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
Autosomal dominant missense mutations in BICD2 cause Spinal Muscular Atrophy Lower Extremity Predominant 2 (SMALED2), a developmental disease of motor neurons. BICD2 is a key component of the cytoplasmic dynein/dynactin motor complex, which in axons drives the microtubule-dependent retrograde transport of intracellular cargo towards the cell soma. Patients with pathological mutations in BICD2 develop malformations of cortical and cerebellar development similar to Bicd2 knockout (-/-) mice. In this study we sought to re-examine the motor neuron phenotype of conditional Bicd2
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