| OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration. | OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration.
Vacher J. | 09/3/2022 |
| Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. | Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.
Schrecker M, Korobenko J, Hite RK., Free PMC Article | 02/27/2021 |
| Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication. | Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication.
Ma C, Xu W, Yang Q, Liu W, Xiang Q, Chen J, Zhang Q, Liu Y, Wu K, Wu J., Free PMC Article | 10/24/2020 |
| These studies defined bifunctional roles for Ostm1 as a major regulator of preosteoclast cytoskeletal rearrangements toward cell multinucleation and of mature osteoclast intracellular lysosomal trafficking and exocytosis mechanism, both of which are essential for bone resorption. | Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation.
Pata M, Vacher J. | 10/26/2019 |
| Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation. | Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F., Free PMC Article | 12/9/2017 |
| KIF5B is essential for Ostm1 intracellular dispersion. | Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
Pandruvada SN, Beauregard J, Benjannet S, Pata M, Lazure C, Seidah NG, Vacher J., Free PMC Article | 06/11/2016 |
| Ostm1 has a primary and autonomous role in neuronal homeostasis | Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
Héraud C, Griffiths A, Pandruvada SN, Kilimann MW, Pata M, Vacher J., Free PMC Article | 12/20/2014 |
| Common gating underlies the slow voltage activation of ClC-7. | Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
Ludwig CF, Ullrich F, Leisle L, Stauber T, Jentsch TJ., Free PMC Article | 12/7/2013 |
| we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi | Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
Ott CE, Fischer B, Schröter P, Richter R, Gupta N, Verma N, Kabra M, Mundlos S, Rajab A, Neitzel H, Kornak U. | 10/26/2013 |
| The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes. | ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
Leisle L, Ludwig CF, Wagner FA, Jentsch TJ, Stauber T., Free PMC Article | 08/6/2011 |
| Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively. | A single-center experience in 20 patients with infantile malignant osteopetrosis.
Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesHigh-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP, Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES, Zmuda JM, MrOS Research Group. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML. | 11/16/2008 |
| mutations in OSTM1 such as the C-terminal deletion mutant studied herein provoke dysregulation of the canonical Wnt/beta-catenin signaling pathway, providing a molecular basis for severe autosomal recessive osteopetrosis | OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling.
Feigin ME, Malbon CC., Free PMC Article | 01/21/2010 |
| A novel mutation affecting the OSTM1 locus responsible for ARO. In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development. | Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis.
Maranda B, Chabot G, Décarie JC, Pata M, Azeddine B, Moreau A, Vacher J. | 01/21/2010 |
| This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis. | Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.
Castellano Chiodo D, DiRocco M, Gandolfo C, Morana G, Buzzi D, Rossi A. | 01/21/2010 |
| mutation in the human GL gene leads to severe recessive osteopetrosis | Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J. | 01/21/2010 |
| The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein. | Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP.
Fischer T, De Vries L, Meerloo T, Farquhar MG., Free PMC Article | 01/21/2010 |