Associated Papers
Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165.
Jankauskas SS et al.
The Journal of Biological Chemistry, 2024
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2024
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.
Chen S et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2024
TMEM165 a new player in proteoglycan synthesis: loss of TMEM165 impairs elongation of chondroitin- and heparan-sulfate glycosaminoglycan chains of proteoglycans and triggers early chondrocyte differentiation and hypertrophy.
Khan S et al.
Cell Death & Disease, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.
Foulquier F et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells.
Stribny J et al.
The Journal of Biological Chemistry, 2020
CDG Therapies: From Bench to Bedside.
Brasil S et al.
International Journal of Molecular Sciences, 2018
Acidic and uncharged polar residues in the consensus motifs of the yeast Ca2+ transporter Gdt1p are required for calcium transport.
Colinet AS et al.
Cellular Microbiology, 2017
Manganese-induced turnover of TMEM165.
Potelle S et al.
The Biochemical Journal, 2017
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
Dulary E et al.
Tissue & Cell, 2017
Evidence for splice transcript variants of TMEM165, a gene involved in CDG.
Krzewinski-Recchi MA et al.
Biochimica Et Biophysica Acta. General Subjects, 2017
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
Bammens R et al.
Glycobiology, 2015
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.
Yuste-Checa P et al.
Clinical Genetics, 2015
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
Rosnoblet C et al.
Human Molecular Genetics, 2013
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.
Demaegd D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F et al.
American Journal of Human Genetics, 2012