Results 101 to 109 of about 751 (109)

LB1721 A novel pathogenic TPCN2 mutation detected for the first time in a Caucasian patient confirms the dominant inheritance of albinism

Journal of Investigative Dermatology, 2023
N. Nagy, M. Pal, J. Kun, G. Bence, P. Urban, M. Medvecz, B. Fábos, A. Neller, J. Danis, Z. Hammad, S. AlMarsomy, E. Adam, A. Gyenesei, M. Szell   +13 more
openaire   +1 more source

ISIDLB1721 - A novel pathogenic TPCN2 mutation detected for the first time in a Caucasian patient confirms the dominant inheritance of albinism

2023
Attila Gyenesei, Éva Ádám, Judit Danis, Beata Fabos, Alexandra Neller, Márta Medvecz, Bence Galic, Jozsef Kun, Péter Urbán, Margit Pál, Nikoletta Nagy, Márta Széll   +11 more
openaire   +1 more source

Tpcn2 knockout mice have improved insulin sensitivity and are protected against high-fat diet-induced weight gain

Physiological Genomics, 2018
John Parrington, Margarida Ruas, John Parks   +2 more
exaly   +2 more sources

Endo-Lysosomal Two-Pore Channels and Their Protein Partners

Handbook of Experimental Pharmacology, 2022
Spyros Zissimopoulos, Marchant Js, Sandip Patel   +2 more
exaly  

NAADP receptors: A one-two.

Cell Calcium, 2021
Philip Biggin, Marchant Js, Sandip Patel   +2 more
exaly  

Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A

Autophagy, 2016
Sandip Patel, Grant Churchill, Fernando Gil   +2 more
exaly  

Questioning Regulation of Two-Pore Channels by NAADP

Messenger (Los Angeles, Calif: Print), 2013
Marchant Js, Sandip Patel
exaly  

Deviant Lysosomal Ca2+ Signalling in Neurodegeneration. An Introduction

Messenger (Los Angeles, Calif: Print), 2016
Sandip Patel
exaly  

TPCs: FROM PLANT TO HUMAN

Physiological Reviews
Christian Grimm, Dawid Jaslan
exaly