ArticleInternational journal of molecular sciences2020
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Similarities and Differences in the Pattern of Tau Hyperphosphorylation in Physiological and Pathological Conditions: Impacts on the Elaboration of Therapies to Prevent Tau Pathology.Frontiers in neurology · 2020Pooled it
- Exploring the Potential of Calebin-A in Targeting Obesity-Related Genes and Pathways.Journal of cellular and molecular medicine · 2026Article
- Substantia nigra and blood gene signatures and biomarkers for Parkinson's disease from integrated multicenter microarray-based transcriptomic analyses.Frontiers in aging neuroscience · 2025Article
- Decoding the role of microtubules: a trafficking road for vesicle.Theranostics · 2025Review
- Integrating single-cell RNA-Seq and machine learning to dissect tryptophan metabolism in ulcerative colitis.Journal of translational medicine · 2024Article
- Construction of a Wilms tumor risk model based on machine learning and identification of cuproptosis-related clusters.BMC medical informatics and decision making · 2024Article
- Serum proteomic analysis uncovers novel serum biomarkers for depression.Frontiers in psychiatry · 2024Article
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- Identification of Optimal Reference Genes for qRT-PCR Normalization for Physical Activity Intervention and Omega-3 Fatty Acids Supplementation in Humans.International journal of molecular sciences · 2023Article
- Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.Journal of molecular modeling · 2023Article
- Novel loss of function mutation inFrontiers in cellular neuroscience · 2023Article
- Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.Molecular genetics & genomic medicine · 2022Article
- Integrated single-cell analyses decode the developmental landscape of the human fetal spine.iScience · 2022Article
- Improved post-stroke spontaneous recovery by astrocytic extracellular vesicles.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Article
- Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.Journal of human genetics · 2021Review
- Associations betweenAging · 2021Article
- With the Permission of Microtubules: An Updated Overview on Microtubule Function During Axon Pathfinding.Frontiers in molecular neuroscience · 2021Review
- Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases.International journal of molecular sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Tubulinopathies are rare neurological disorders caused by alterations in tubulin structure and function, giving rise to a wide range of brain abnormalities involving neuronal proliferation, migration, differentiation and axon guidance. TUBB is one of the ten β-tubulin encoding genes present in the human genome and is broadly expressed in the developing central nervous system and the skin. Mutations in TUBB are responsible for two distinct pathological conditions: the first is characterized by microcephaly and complex structural brain malformations and the second, also known as "circumferential skin creases Kunze type" (CSC-KT), is associated to neurological features, excess skin folding and growth retardation. We used a combination of immunocytochemical and cellular approaches to explore, on patients' derived fibroblasts, the functional consequences of two TUBB variants: the novel mutation (p.N52S), associated with basal ganglia and cerebellar dysgenesis, and the previously reported variant (p.M73T), linked to microcephaly, corpus callosum agenesis and CSC-KT skin phenotype. Our results demonstrate that these variants impair microtubule (MT) function and dynamics. Most importantly, our studies show an altered epidermal growth factor (EGF) and transferrin (Tf) intracellular vesicle trafficking in both patients' fibroblasts, suggesting a specific role of TUBB in MT-dependent vesicular transport.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.