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
New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions.
Legrand D et al.
Computational and Structural Biotechnology Journal, 2023
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 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
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
Morelle W et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
Zeevaert R et al.
Jimd Reports, 2013
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F et al.
American Journal of Human Genetics, 2012