Ciliary dyneins and dynein related ciliopathies
D Antony, HG Brunner, M Schmidts - Cells, 2021 - mdpi.com
Although ubiquitously present, the relevance of cilia for vertebrate development and health
has long been underrated. However, the aberration or dysfunction of ciliary structures or …
has long been underrated. However, the aberration or dysfunction of ciliary structures or …
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
C Zeitz, J Navarro, LA Pormehr, C Méjécase… - Genetics in …, 2024 - Elsevier
Purpose Progressive inherited retinal degenerations (IRDs) affecting rods and cones are
clinically and genetically heterogeneous and can lead to blindness with limited therapeutic …
clinically and genetically heterogeneous and can lead to blindness with limited therapeutic …
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
T Hayman, T Millo, K Hendler, I Chowers… - Journal of Medical …, 2024 - jmg.bmj.com
Background Inherited retinal diseases (IRDs) include a range of vision loss conditions
caused by variants in different genes. The clinical and genetic heterogeneity make …
caused by variants in different genes. The clinical and genetic heterogeneity make …
Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance
Z Li, W Cheng, F Zi, J Wang, X Huang, X Sheng… - Frontiers in …, 2023 - frontiersin.org
Purpose: To investigate pathogenic variants in six families with cone–rod dystrophy (CORD)
presenting various inheritance patterns by using whole-exome sequencing (WES) and …
presenting various inheritance patterns by using whole-exome sequencing (WES) and …
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
C Zeitz, C Méjécase, C Michiels, C Condroyer… - International Journal of …, 2021 - mdpi.com
The purpose of this work was to identify the gene defect underlying a relatively mild rod-
cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in …
cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in …
Mitochondrial functional impairment in ARL3‐mutation related rod‐cone dystrophy
X Zhang, S Yao, L Zhang, B Zhang, M Yang… - FASEB …, 2024 - Wiley Online Library
Mitochondria are vital for retinal cell function and survival, and there is growing evidence
linking mitochondrial dysfunction to retinal degenerations. Although ARL3 mutations have …
linking mitochondrial dysfunction to retinal degenerations. Although ARL3 mutations have …
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa
Y Wang, Y Teng, D Liang, Z Li, L Wu - Frontiers in Genetics, 2021 - frontiersin.org
Retinitis pigmentosa (RP) is characterized by tremendous genetic and phenotypic
heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for …
heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for …
Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi …
Cytoplasmic Dynein-2 or IFT-dynein is the only known retrograde motor for intraflagellar
transport, enabling protein trafficking from the ciliary tip to the base. Dysfunction of WDR34 …
transport, enabling protein trafficking from the ciliary tip to the base. Dysfunction of WDR34 …