Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

L von Elsner, G Chai, PE Schneeberger, FL Harms… - Brain, 2022 - academic.oup.com
The major spliceosome mediates pre-mRNA splicing by recognizing the highly conserved
sequences at the 5′ and 3′ splice sites and the branch point. More than 150 proteins …

RPGRIP1L helps to establish the ciliary gate for entry of proteins

H Lin, S Guo, SK Dutcher - Journal of cell science, 2018 - journals.biologists.com
Mutations in transition zone genes change the composition of the ciliary proteome. We
isolated new mutations in RPGRIP1L (denotated as RPG1 in algae) that affect the …

Alternative Splicing During the Chlamydomonasreinhardtii Cell Cycle

M Pandey, GD Stormo… - G3: Genes, Genomes …, 2020 - academic.oup.com
Genome-wide analysis of transcriptome data in Chlamydomonas reinhardtii shows periodic
patterns in gene expression levels when cultures are grown under alternating light and dark …

The Chlamydomonas nuclear genome

RJ Craig, O Vallon - The Chlamydomonas Sourcebook, 2023 - Elsevier
Chlamydomonas has become a premier model organism thanks to the ease with which
gene function can be analyzed experimentally. With the advent of genome and …

Reconstruction of a Comprehensive Interactome and Experimental Data Analysis of FRA10AC1 May Provide Insights into Its Biological Role in Health and Disease

T Sarafidou, E Galliopoulou, D Apostolopoulou… - Genes, 2023 - mdpi.com
FRA10AC1, the causative gene for the manifestation of the FRA10A fragile site, encodes a
well-conserved nuclear protein characterized as a non-core spliceosomal component. Pre …

Reduced dosage of multiple dynein arm preassembly factors limits cilia regeneration in Chlamydomonas reinhardtii

GM Penny, SK Dutcher - bioRxiv, 2023 - biorxiv.org
Motile cilia are complex organelles comprised of> 800 structural proteins. Variants in 58 of
these genes cause primary ciliary dyskinesia (PCD) in humans. We used a second-site non …

Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins

L Brücker - 2022 - openscience.ub.uni-mainz.de
Primary cilia are microtubule-based cell organelles that are required for the communication
between cells in a tissue and the regulation of intracellular signalling pathways. They are …

[PDF][PDF] Λειτουργική ανάλυση του γονιδίου FRA10AC1 του ανθρώπου στο πλαίσιο του δικτύου πρωτεϊνικών αλληλεπιδράσεων του σωματίου συναρμογής

Ε Γαλλιοπούλου - 2018 - ir.lib.uth.gr
Το γονίδιο FRA10AC1 εντοπίζεται στην σπάνια εύθραυστη χρωμοσωματική θέση FRA10A, η
οποία επάγεται απουσία φυλλικού οξέος στο θρεπτικό μέσο καλλιέργειας των κυττάρων, στην …