Cargando…

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

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 transp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rossor, Alexander M., Sleigh, James N., Groves, Michael, Muntoni, Francesco, Reilly, Mary M., Hoogenraad, Casper C., Schiavo, Giampietro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076953/ https://www.ncbi.nlm.nih.gov/pubmed/32183910 http://dx.doi.org/10.1186/s40478-020-00909-6

Ejemplares similares

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss
por: Hirsch, Yoel, et al.
Publicado: (2023)

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
por: Shorrock, Hannah K, et al.
Publicado: (2018)

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein
por: Martinez-Carrera, Lilian A., et al.
Publicado: (2015)

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis
por: Koboldt, Daniel C., et al.
Publicado: (2018)

Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy
por: Schmitt, Linda-Isabell, et al.
Publicado: (2023)

Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo
por: Will, Lena, et al.
Publicado: (2019)

PTPN23 binds the dynein adaptor BICD1 and is required for endocytic sorting of neurotrophin receptors
por: Budzinska, Marta I., et al.
Publicado: (2020)

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
por: Bansagi, Boglarka, et al.
Publicado: (2015)

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia
por: Abdel-Salam, Ghada M. H., et al.
Publicado: (2022)

BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures
por: Splinter, Daniël, et al.
Publicado: (2012)

Developmental demands contribute to early neuromuscular degeneration in CMT2D mice
por: Sleigh, James N., et al.
Publicado: (2020)

Developmental milestones in type I spinal muscular atrophy
por: De Sanctis, Roberto, et al.
Publicado: (2016)

Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis
por: Tosolini, Andrew P., et al.
Publicado: (2017)

Stasimon Contributes to the Loss of Sensory Synapses and Motor Neuron Death in a Mouse Model of Spinal Muscular Atrophy
por: Simon, Christian M., et al.
Publicado: (2019)

Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders
por: Yi, Julie, et al.
Publicado: (2023)

In vivo imaging of axonal transport in murine motor and sensory neurons
por: Gibbs, Katherine L., et al.
Publicado: (2016)

Coil-to-α-helix transition at the Nup358-BicD2 interface activates BicD2 for dynein recruitment
por: Gibson, James M, et al.
Publicado: (2022)

Sensory Neurons Do Not Induce Motor Neuron Loss in a Human Stem Cell Model of Spinal Muscular Atrophy
por: Schwab, Andrew J., et al.
Publicado: (2014)

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
por: Sleigh, James N., et al.
Publicado: (2011)

Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice
por: Xiu, Jianbo, et al.
Publicado: (2022)

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy
por: Zambon, Alberto A., et al.
Publicado: (2022)

Different trajectories in upper limb and gross motor function in spinal muscular atrophy
por: Coratti, Giorgia, et al.
Publicado: (2021)

The mRNA transportome of the BicD/Egl transport machinery
por: Vazquez-Pianzola, Paula, et al.
Publicado: (2016)

Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy
por: Boido, Marina, et al.
Publicado: (2018)

In vivo imaging of axonal transport in peripheral nerves of rodent forelimbs
por: Lang, Qiuhan, et al.
Publicado: (2023)

A Certain Form of Muscular Atrophy Peculiar to the Lower Extremities
Publicado: (1882)

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy
por: Motyl, Anna A L, et al.
Publicado: (2020)

Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy
por: Ngawa, Magali, et al.
Publicado: (2023)

Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy
por: Courtney, Natalie L., et al.
Publicado: (2019)

Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy
por: Baranello, Giovanni, et al.
Publicado: (2021)

Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement
por: Ramsey, Danielle, et al.
Publicado: (2022)

Inducible manipulation of motor–cargo interaction using engineered kinesin motors
por: Hummel, Jessica J. A., et al.
Publicado: (2021)

A simple, step-by-step dissection protocol for the rapid isolation of mouse dorsal root ganglia
por: Sleigh, James N., et al.
Publicado: (2016)

A video protocol for rapid dissection of mouse dorsal root ganglia from defined spinal levels
por: Sleigh, James N., et al.
Publicado: (2020)

In Vivo Imaging of Anterograde and Retrograde Axonal Transport in Rodent Peripheral Nerves
por: Sleigh, James N., et al.
Publicado: (2020)

Dissection, in vivo imaging and analysis of the mouse epitrochleoanconeus muscle
por: Villarroel‐Campos, David, et al.
Publicado: (2021)

Coupling axonal mRNA transport and local translation to organelle maintenance and function
por: Vargas, Jose Norberto S., et al.
Publicado: (2022)

Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability
por: Liu, Huisheng, et al.
Publicado: (2015)

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
por: Teoh, Hooi Ling, et al.
Publicado: (2017)

Disease-associated mutations in human BICD2 hyperactivate motility of dynein–dynactin
por: Huynh, Walter, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_c7sbjl2hkhi5qh4va4ro0gqoan