Emerging mechanistic understanding of cilia function in cellular signalling

KI Hilgendorf, BR Myers, JF Reiter - Nature Reviews Molecular Cell …, 2024 - nature.com
Primary cilia are solitary, immotile sensory organelles present on most cells in the body that
participate broadly in human health, physiology and disease. Cilia generate a unique …

Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia

VR Palicharla, SH Hwang, BN Somatilaka… - Molecular biology of …, 2023 - Am Soc Cell Biol
The primary cilium is a nexus for cell signaling and relies on specific protein trafficking for
function. The tubby family protein TULP3 transports integral membrane proteins into cilia …

[HTML][HTML] Molecular and structural perspectives on protein trafficking to the primary cilium membrane

V Reddy Palicharla… - Biochemical Society …, 2024 - portlandpress.com
The primary cilium is a dynamic subcellular compartment templated from the mother
centriole or basal body. Cilia are solitary and tiny, but remarkably consequential in cellular …

NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES results

N Kamal, HJ Khamirani, M Dara, M Dianatpour - Gene, 2023 - Elsevier
NRXN3 gene encodes neurexin-III which is a Neural Cell Adhesion Molecule (NCAM) with
important synaptic functions in the brain. Neurexin-III deficiency could affect synapse …

[HTML][HTML] A Highlights from MBoC Selection: Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia

VR Palicharla, SH Hwang, BN Somatilaka… - Molecular Biology of …, 2023 - ncbi.nlm.nih.gov
The primary cilium is a nexus for cell signaling and relies on specific protein trafficking for
function. The tubby family protein TULP3 transports integral membrane proteins into cilia …

Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant

T Robert, B Savenkoff, T Legris… - Nephrology Dialysis …, 2023 - academic.oup.com
Chronic kidney disease (CKD) is a public health problem. In a large national registry, 20%–
25% of patients with endstage kidney disease have been reported with an undetermined …

Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review

N Fazelzadeh Haghighi, N Kamal… - The Journal of …, 2023 - Wiley Online Library
Pathogenic variants in the EDARADD gene result in autosomal recessive and autosomal
dominant ectodermal dysplasia. This article reports on the fourth family in the world with …

A Rare Case Mimicking Congenital Hepatic Fibrosis

C Jiang, M Lian, X Ma - Gastroenterology, 2024 - Elsevier
Author Contributions: Chenyi Jiang and Min Lian designed the study with assistance from
Xiong Ma. Chenyi Jiang and Min Lian collected the data. Chenyi Jiang prepared the graphs …