Phosphoinositides in new spaces

EM Davies, CA Mitchell… - Cold Spring Harbor …, 2023 - cshperspectives.cshlp.org
Phosphoinositides (PIs) are phospholipids derived from phosphatidylinositol. PIs are
regulated via reversible phosphorylation, which is directed by the opposing actions of PI …

[HTML][HTML] Cilia-localized counterregulatory signals as drivers of renal cystogenesis

RV Walker, A Maranto, VR Palicharla… - Frontiers in Molecular …, 2022 - frontiersin.org
Primary cilia play counterregulatory roles in cystogenesis—they inhibit cyst formation in the
normal renal tubule but promote cyst growth when the function of polycystins is impaired …

Two cooperative binding sites sensitize PI(4,5)P2 recognition by the tubby domain

V Thallmair, L Schultz, W Zhao, SJ Marrink, D Oliver… - Science …, 2022 - science.org
Phosphoinositides (PIs) are lipid signaling molecules that operate by recruiting proteins to
cellular membranes via PI recognition domains. The dominant PI of the plasma membrane is …

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 …

Beyond the kidney biopsy: genomic approach to undetermined kidney diseases

T Robert, L Raymond, M Dancer, J Torrents… - Clinical Kidney …, 2024 - academic.oup.com
Background According to data from large national registries, almost 20%–25% of patients
with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data …

A SEC61A1 variant is associated with autosomal dominant polycystic liver disease

B Schlevogt, V Schlieper, J Krader, R Schröter… - Liver …, 2023 - Wiley Online Library
Abstract Background and Aims Autosomal dominant polycystic liver and kidney disease is a
spectrum of hereditary diseases, which display disturbed function of primary cilia leading to …

Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies

AL Moran, L Louzao-Martinez, DP Norris… - Nature Reviews …, 2023 - nature.com
Primary cilia act as cell surface antennae, coordinating cellular responses to sensory inputs
and signalling molecules that regulate developmental and homeostatic pathways. Cilia are …

[HTML][HTML] A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease

H Jafari Khamirani, VR Palicharla, SA Dastgheib… - Frontiers in …, 2022 - frontiersin.org
Patient variants in Tubby Like Protein-3 (TULP3) have recently been associated with
progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein …

Pathological consequences of DNA damage in the kidney

JI Garaycoechea, C Quinlan… - Nature Reviews …, 2023 - nature.com
DNA lesions that evade repair can lead to mutations that drive the development of cancer,
and cellular responses to DNA damage can trigger senescence and cell death, which are …

[HTML][HTML] Genetics of liver disease in adults

C Konkwo, S Chowdhury… - Hepatology …, 2024 - journals.lww.com
Chronic liver disease stands as a significant global health problem with an estimated 2
million annual deaths across the globe. Combining the use of next-generation sequencing …