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Sorting nexin 10

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] (from NCBI)
Top mentioned proteins: CAN, A-3, ATPase, SET, V-ATPase
Papers on SNX10
Diagnostic marker signature for esophageal cancer from transcriptome analysis.
Bollschweiler et al., Köln, Germany. In Tumour Biol, Jan 2016
The markers significantly overexpressed already in earlier tumor stages (pT1-2) of both histological subtypes (n = 19) have been clustered in a "diagnostic signature": PLA2G7, PRAME, MMP1, MMP3, MMP12, LIlRB2, TREM2, CHST2, IGFBP2, IGFBP7, KCNJ8, EMILIN2, CTHRC1, EMR2, WDR72, LPCAT1, COL4A2, CCL4, and SNX10.
Allele-specific imbalance mapping at human orthologs of mouse susceptibility to colon cancer (Scc) loci.
Ewart Toland et al., Chicago, United States. In Int J Cancer, Dec 2015
Two variants in SNX10 (SCC13) showed significant evidence of allelic selection after multiple comparisons testing.
Deficiency of sorting nexin 10 prevents bone erosion in collagen-induced mouse arthritis through promoting NFATc1 degradation.
Shen et al., Guangzhou, China. In Ann Rheum Dis, Aug 2015
Here we studied the roles and precise mechanisms of SNX10 in the bone destruction of collagen-induced arthritis (CIA) mice.
Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.
Battaglino et al., São Paulo, Brazil. In Plos Genet, Mar 2015
Mutations in sorting nexin 10 (Snx10) have recently been found to account for roughly 4% of all human malignant osteopetrosis, some of them fatal.
HOXA genes cluster: clinical implications of the smallest deletion.
Esposito et al., Milano, Italy. In Ital J Pediatr, 2014
(chr7: 26,333,553-28,859,312), involving the entire HOXA cluster and a small number of other genes as SNX10, SKAP2, EVX1, HIBADH, TAX1BP1, JAZF1, and CREB5.
Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.
Liu et al., Guangzhou, China. In Proteins, 2014
Sorting nexin 10 (SNX10), the unique member of the SNX family having vacuolation activity in cells, was shown to be involved in the development of autosomal recessive osteopetrosis (ARO) in recent genetic studies.
Identification of genes whose expression is altered by obesity throughout the arterial tree.
Laughlin et al., United States. In Physiol Genomics, 2014
We found a total of 15 genes that were consistently upregulated with obesity (MIS18A, CTRB1, FAM151B, FOLR2, PXMP4, OAS1B, SREBF2, KLRA17, SLC25A44, SNX10, SLFN3, MEF2BNB, IRF7, RAD23A, LGALS3BP) and five genes that were consistently downregulated with obesity (C2, GOLGA7, RIN3, PCP4, CYP2E1).
Gene expression signature of non-involved lung tissue associated with survival in lung adenocarcinoma patients.
Dragani et al., Milano, Italy. In Carcinogenesis, 2013
Ten genes for which the loge-transformed hazard ratios expressed the same direction of effect in the discovery (P < 1.0 × 10(-3)) and validation series comprised the gene expression signature associated with survival: CNTNAP1, PKNOX1, FAM156A, FRMD8, GALNTL1, TXNDC12, SNTB1, PPP3R1, SNX10 and SERPINH1.
Osteopetrosis: genetics, treatment and new insights into osteoclast function.
Helfrich et al., Rozzano, Italy. In Nat Rev Endocrinol, 2013
The genetic basis of this disease is now largely uncovered: mutations in TCIRG1, CLCN7, OSTM1, SNX10 and PLEKHM1 lead to osteoclast-rich ARO (in which osteoclasts are abundant but have severely impaired resorptive function), whereas mutations in TNFSF11 and TNFRSF11A lead to osteoclast-poor ARO.
Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation.
Liu et al., Guangzhou, China. In J Biol Chem, 2013
We propose that this PXe domain is present in SNX10 and is responsible for the vacuolation activity of SNX10.
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
Sobacchi et al., Milano, Italy. In J Bone Miner Res, 2013
Very recently, a mutation in the sorting nexin 10 (SNX10) gene, whose product is suggested to interact with the proton pump, has been found in 3 consanguineous families of Palestinian origin, thus adding a new candidate gene in patients not previously classified.
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.
Fink et al., Melbourne, Australia. In Eur J Med Genet, 2013
Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative.
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
Sobacchi et al., Beirut, Lebanon. In Eur J Med Genet, 2013
Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis.
SNX10 is required for osteoclast formation and resorption activity.
Battaglino et al., Boston, United States. In J Cell Biochem, 2012
Since inhibition of vesicular trafficking is essential for osteoclast formation and activity and SNX10 is involved in vesicular trafficking, these studies may identify a new gene involved in the development of bone diseases including osteoporosis.
An SNX10 mutation causes malignant osteopetrosis of infancy.
Elpeleg et al., Jerusalem, Israel. In J Med Genet, 2012
Identification of SNX10 as a new osteopetrosis associated gene in consanguineous families of Palestinian origin.
A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo.
Pei et al., Guangzhou, China. In Cell Res, 2012
SNX10 regulates the ciliary trafficking of Rab8a, which is a critical regulator of ciliary membrane extension.
Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice.
Osta et al., Zaragoza, Spain. In Plos One, 2011
Transcriptional expression levels of seventeen genes, Ankrd1, Calm1, Col19a1, Fbxo32, Gsr, Impa1, Mef2c, Mt2, Myf5, Myod1, Myog, Nnt, Nogo A, Pax7, Rrad, Sln and Snx10, were tested in each muscle biopsy sample.
Sorting nexin 10 induces giant vacuoles in mammalian cells.
Pei et al., Guangzhou, China. In J Biol Chem, 2007
SNX10 activity may be involved in the regulation of endosome homeostasis
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