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Sorting nexin 14

SNX14, sorting nexin 14, YR-14
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. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, RGS, V1a, HAD, SURF1
Papers on SNX14
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Sahin et al., Heidelberg, Germany. In Brain, Jan 2016
Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-propeller protein-associated neurodegeneration due to mutations in WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYVE26 and TECPR2 mutations, respectively.
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
Kahrizi et al., Tehrān, Iran. In Arch Iran Med, Oct 2015
RESULTS: We identified three novel candidate genes, RIPPLY1, MRPL10, SNX14, and a new mutation in known gene SURF1.
Mdm1/Snx13 is a novel ER-endolysosomal interorganelle tethering protein.
Emr et al., Ithaca, United States. In J Cell Biol, Sep 2015
Finally, we find that Mdm1 truncations analogous to neurological disease-associated SNX14 alleles fail to tether the ER and vacuole and perturb sphingolipid metabolism.
SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling.
Chang et al., Seoul, South Korea. In J Cell Sci, Jun 2015
In this study, we found that 5-HT6R directly interacted with SNX14 and that this interaction dramatically increased internalization and degradation of 5-HT6R.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Gleeson et al., New York City, United States. In Nat Genet, May 2015
Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor.
Epitope Fingerprinting for Recognition of the Polyclonal Serum Autoantibodies of Alzheimer's Disease.
Ueira-Vieira et al., Uberlândia, Brazil. In Biomed Res Int, 2014
The putative antigens MAST1, Enah, MAO-A, X11/MINT1, HGF, SNX14, ARHGAP 11A, APC, and CENTG3, which have been associated with AD or have functions in neural tissue, may indicate possible therapeutic targets.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Stanier et al., London, United Kingdom. In Am J Hum Genet, 2014
Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures.
Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling.
Collins et al., Australia. In J Biol Chem, 2014
The PX domain is a sensor of membrane phosphoinositide lipids and we find that specific sequence alterations in the PX domains of the mammalian RGS-PX proteins, SNX13, SNX14, SNX19, and SNX25, confer differential phosphoinositide binding preferences.
Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice.
Philpot et al., Chapel Hill, United States. In Plos One, 2013
Here we used laser capture microdissection of visual cortical neurons and found evidence that sorting nexin 14 (Snx14) is a neuronally imprinted gene in mice.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Hackmann et al., Dresden, Germany. In Eur J Med Genet, 2012
Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.
Deciphering the lithium transcriptome: microarray profiling of lithium-modulated gene expression in human neuronal cells.
Parthasarathy et al., Louisville, United States. In Neuroscience, 2008
Differentially expressed genes associated with phosphoinositide metabolism include those encoding phosphatidyl inositol 4-phosphate 5-kinase type II alpha (PIP5K2A), WD repeat domain, phosphoinositide interacting 1 protein (WIPI49), tribbles homolog 3 (TRB3) and sorting nexin 14 (SNX14).
Sorting nexin-14, a gene expressed in motoneurons trapped by an in vitro preselection method.
Alonso et al., Marseille, France. In Dev Dyn, 2001
The second clone, YR-14, represents a sorting nexin (SNX14) gene whose expression in vivo coincides with that of LIM-homeodomain Islet-1 in several tissues.
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