ArticleScientific reports2014
Duplication in the microtubule-actin cross-linking factor 1 gene causes a novel neuromuscular condition.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
- Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants.Human genomics · 2026Article
- Interplay between microtubule interactome, myonuclei mechanotransduction, and positioning in myopathies.Nucleus (Austin, Tex.) · 2025Review
- A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025Article
- Domain specific phenotypic expansion associated with variants inmedRxiv : the preprint server for health sciences · 2025Article
- Characterization of Spectrin Family Genes and Their Evolutionary Roles in Domestication and Breeding of the SilkwormInsects · 2025Article
- Article
- Strength Through Unity: The Power of the Mega-Scaffold MACF1.Frontiers in cell and developmental biology · 2021Review
- Population genomic data in spider mites point to a role for local adaptation in shaping range shifts.Evolutionary applications · 2020Article
- Decreasing Microtubule Actin Cross-Linking Factor 1 Inhibits Melanoma Metastasis by Decreasing Epithelial to Mesenchymal Transition.Cancer management and research · 2020Article
- MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses.The Journal of cell biology · 2019Article
- Mutations ofFrontiers in neurology · 2019Article
- MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.American journal of human genetics · 2018Article
- Microtubule-Actin Crosslinking Factor 1 and Plakins as Therapeutic Drug Targets.International journal of molecular sciences · 2018Review
- Microtubule-actin crosslinking factor 1 (Macf1) domain function in Balbiani body dissociation and nuclear positioning.PLoS genetics · 2017Article
- The role of MACF1 in nervous system development and maintenance.Seminars in cell & developmental biology · 2017Review
- Spectraplakin family proteins - cytoskeletal crosslinkers with versatile roles.Journal of cell science · 2017Review
- Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease.Molecular neurobiology · 2017Article
- Cytoskeletal Integrators: The Spectrin Superfamily.Cold Spring Harbor perspectives in biology · 2016Review
- Microtubule plus-end tracking proteins in neuronal development.Cellular and molecular life sciences : CMLS · 2016Review
- Isoforms, structures, and functions of versatile spectraplakin MACF1.BMB reports · 2016Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spectrins and plakins are important communicators linking cytoskeletal components to each other and to cellular junctions. Microtubule-actin cross-linking factor 1 (MACF1) belongs to the spectraplakin family and is involved in control of microtubule dynamics. Complete knock out of MACF1 in mice is associated with developmental retardation and embryonic lethality. Here we present a family with a novel neuromuscular condition. Genetic analyses show a heterozygous duplication resulting in reduced MACF1 gene product. The functional consequence is affected motility observed as periodic hypotonia, lax muscles and diminished motor skills, with heterogeneous presentation among the affected family members. To corroborate these findings we used RNA interference to knock down the VAB-10 locus containing the MACF1 homologue in C. elegans, and we could show that this also causes movement disturbances. These findings suggest that changes in the MACF1 gene is implicated in this neuromuscular condition, which is an important observation since MACF1 has not previously been associated with any human disease and thus presents a key to understanding the essential nature of this gene.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.