Associated Papers
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Courdier C et al.
European Journal of Human Genetics : Ejhg, 2025
Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.
Abrahamian C et al.
Nature Communications, 2024
Structural basis for inhibition of the lysosomal two-pore channel TPC2 by a small molecule antagonist.
Chi G et al.
Structure (london, England : 1993), 2024
Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population.
Binobaid L et al.
Saudi Pharmaceutical Journal : Spj : the Official Publication of the Saudi Pharmaceutical Society, 2024
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Nagy N et al.
International Journal of Molecular Sciences, 2024
A novel gain of function mutation in TPC2 reiterates pH-pigmentation interplay: Emerging role of ionic homeostasis as a master pigmentation regulator.
Sharma N et al.
Cell Calcium, 2023
A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation.
Wang Q et al.
Nature Communications, 2023
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Electrophysiology of Endolysosomal Two-Pore Channels: A Current Account.
Patel S et al.
Cells, 2022
The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank.
Alharbi AF et al.
Npj Genomic Medicine, 2021
Two-pore and TRPML cation channels: Regulators of phagocytosis, autophagy and lysosomal exocytosis.
Rosato AS et al.
Pharmacology & Therapeutics, 2021
Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.
Böck J et al.
Plos Genetics, 2021
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
Bonnard C et al.
The Journal of Experimental Medicine, 2020
Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.
Gerndt S et al.
Elife, 2020
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.
Minarik L et al.
Folia Biologica, 2020
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A et al.
Nature Genetics, 2018
On the structure and mechanism of two-pore channels.
Kintzer AF et al.
The Febs Journal, 2018
TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.
Chao YK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
DNA polymorphisms: what they are and their role in human pigmentation.
Kosmadaki MG et al.
Actas Dermo-sifiliograficas, 2009
Molecular genetics of human pigmentation diversity.
Sturm RA
Human Molecular Genetics, 2009
Two newly identified genetic determinants of pigmentation in Europeans.
Sulem P et al.
Nature Genetics, 2008
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
Kalay E et al.
Journal of Molecular Medicine (berlin, Germany), 2007