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OSTM1 encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. Zusätzlich bieten wir Ihnen OSTM1 Proteine (10) und OSTM1 Kits (2) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 54 products:
Human Polyclonal OSTM1 Primary Antibody für ICC, IF - ABIN4341943
Majumdar, Capetillo-Zarate, Cruz, Gouras, Maxfield: Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes. in Molecular biology of the cell 2011
Show all 2 Pubmed References
Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation.
KIF5B (zeige KIF5B Antikörper) is essential for Ostm1 intracellular dispersion.
Ostm1 has a primary and autonomous role in neuronal homeostasis
Common gating underlies the slow voltage activation of ClC-7 (zeige CLCN7 Antikörper).
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
The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit (zeige POLG Antikörper) are required for ClC-7 (zeige CLCN7 Antikörper) Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7 (zeige CLCN7 Antikörper)-dependent trafficking to lysosomes.
mutation in the human GL gene leads to severe recessive osteopetros (zeige CSF1 Antikörper)is
The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein.
A novel mutation affecting the OSTM1 locus responsible for ARO (zeige CYP19A1 Antikörper). In addition to common clinical features of osteopetrosis (zeige CSF1 Antikörper), the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development.
This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis (zeige CSF1 Antikörper).
Truncated OSTM1 significantly inhibited the expression of osteoclast marker genes through the down-regulation of the BLIMP1 (zeige PRDM1 Antikörper)-NFATc1 (zeige NFATC1 Antikörper) axis.
Our in vivo structure-function analysis of ClC-7 (zeige CLCN7 Antikörper) reveals that both protein-protein interactions and ion transport must be considered in the pathogenesis of ClC-7 (zeige CLCN7 Antikörper)-related diseases.
Omi (zeige HTRA2 Antikörper) is a recessive mutation in the Ostm1 gene affecting teeth and coat color.
Ostm1 is a bona fide target of miR (zeige MLXIP Antikörper)-140, which is significantly decreased during adipogenic differentiation.
Neuropathologic changes similar to neuronal ceroid lipofuscinosis (zeige CLN6 Antikörper) are found in osteoporosis associated transmembrane protein 1 (zeige TMEM1 Antikörper) (Ostml)-deficient mice.
mutation induces severe malignant autosomal recessive osteopetrosis (zeige CSF1 Antikörper); studies show that Gl protein function is absolutely required for osteoclast and melanocyte maturation and function
both ClC-7 (zeige CLCN7 Antikörper) and Ostm1 proteins co-localize in late endosomes and lysosomes of various tissues, as well as in the ruffled border of bone-resorbing osteoclasts
microphthalmia transcription factor (zeige MITF Antikörper) regulates Clcn7 and Ostm1 expression in osteoclasts
This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.
osteopetrosis-associated transmembrane protein 1
, osteopetrosis associated transmembrane protein 1
, GAIP-interacting protein N terminus
, chloride channel 7 beta subunit
, grey-lethal osteopetrosis
, grey lethal osteopetrosis
, GAIP interacting protein N terminus
, osteopetrosis associated transmembrane protein 1-like