Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from Missense variants in TUBA4A cause myo-tubulinopathies. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
1993 · External reference
Disorders of microtubule function in neurons: Imaging correlates
10.3174/ajnr.a4552 · 2016 · External reference
Repositioning microtubule stabilizing drugs for brain disorders
10.3389/fncel.2018.00226 · 2018 · External reference
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
10.1126/science.adf5489 · 2024 · External reference
Mutations in TUBA4A lead to human zygotic arrest and early developmental failure
10.1093/lifemedi/lnad032 · 2023 · External reference
Microtubule polymerization dynamics
10.1146/annurev.cellbio.13.1.83 · 1997 · External reference
Dynamic instability of microtubule growth
10.1038/312237a0 · 1984 · External reference
Microtubule-dependent transport in neurons: Steps towards an understanding of regulation, function and dysfunction
10.1016/j.ceb.2004.06.002 · 2004 · External reference
Tubulin genes and malformations of cortical development
10.1016/j.ejmg.2018.07.012 · 2018 · External reference
All tubulins are not alike: Heterodimer dissociation differs among different biological sources
10.1074/jbc.ra119.007973 · 2019 · External reference
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
10.1016/j.neuron.2014.09.027 · 2014 · External reference
Novel TUBA4A variant associated with familial frontotemporal dementia
10.1212/nxg.0000000000000596 · 2021 · External reference
Frontotemporal lobar degeneration case with an N-terminal TUBA4A mutation exhibits reduced TUBA4A levels in the brain and TDP-43 pathology
10.3390/biom12030440 · 2022 · External reference
An autopsy case of pure nigropathy with TUBA4A nonsense mutation
10.1111/nan.12712 · 2021 · External reference
A new genetic cause of spastic ataxia: The p.Glu415Lys variant in TUBA4A
10.1007/s00415-023-11816-w · 2023 · External reference
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
10.1093/brain/awae193 · 2024 · External reference
Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
10.1136/jmg-2024-110163 · 2024 · External reference
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
10.1136/jmg-2023-109786 · 2024 · External reference
TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics
10.7554/elife.76189 · 2022 · External reference
The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation
10.3389/fncel.2022.1023267 · 2022 · External reference
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
10.1038/s41431-020-00804-7 · 2021 · External reference
TUBB3 and KIF21A in neurodevelopment and disease
10.3389/fnins.2023.1226181 · 2023 · External reference
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
10.1016/j.neurobiolaging.2016.12.008 · 2017 · External reference
Unresolved reference
2013 · External reference
The structure of N184 K amyloidogenic variant of gelsolin highlights the role of the H-bond network for protein stability and aggregation properties
10.1007/s00249-019-01409-9 · 2020 · External reference
Alzheimer’s protective A2T mutation changes the conformational landscape of the aβ1–42 monomer differently than does the A2V mutation
10.1016/j.bpj.2014.12.013 · 2015 · External reference
Prediction of aggregation-prone regions in structured proteins
10.1016/j.jmb.2008.05.013 · 2008 · External reference
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
10.1038/gim.2015.30 · 2015 · External reference
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
10.1016/j.ajhg.2009.10.007 · 2009 · External reference
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
10.1186/s13059-023-02894-0 · 2023 · External reference
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
10.1007/s00439-021-02379-9 · 2021 · External reference
Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: A systematic review and meta-summary
10.3390/cells11244065 · 2022 · External reference
Tubulin: Nucleotide binding and enzymic activity
10.1016/0022-2836(74)90475-6 · 1974 · External reference
Rate for nucleotide release from tubulin
10.1016/s0021-9258(18)33113-2 · 1983 · External reference
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
2023 · External reference
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia
10.1002/mus.23349 · 2012 · External reference
Multisystem proteinopathy: Where myopathy and motor neuron disease converge
10.1002/mus.27097 · 2021 · External reference
Multisystem proteinopathy: Intersecting genetics in muscle, bone, and brain degeneration
10.1212/wnl.0000000000001862 · 2015 · External reference
P62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
10.1083/jcb.200507002 · 2005 · External reference
Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS
10.1016/j.neuron.2014.10.002 · 2014 · External reference
Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: Re-evaluating the pathogenesis of TUBA4A in ALS
10.1136/jnnp-2017-317560 · 2018 · External reference
In silico analysis of TUBA4A mutations in amyotrophic lateral sclerosis to define mechanisms of microtubule disintegration
10.1038/s41598-023-28381-x · 2023 · External reference
Assessing the role of TUBA4A gene in frontotemporal degeneration
10.1016/j.neurobiolaging.2015.10.030 · 2016 · External reference
The tubulin code and its role in controlling microtubule properties and functions
10.1038/s41580-020-0214-3 · 2020 · External reference
The tubulin code
10.4161/cc.6.17.4633 · 2007 · External reference
Unresolved reference
1997 · External reference
Microtubule-based transport is essential to distribute RNA and nascent protein in skeletal muscle
10.1038/s41467-021-26383-9 · 2021 · External reference
The genotype-tissue expression (GTEx) project
10.1038/ng.2653 · 2013 · External reference
Tissue-based map of the human proteome
10.1126/science.1260419 · 2015 · External reference
