MAPT (phospho-Thr205) Antibody
- Known as:
- MAPT (phosphorilated-Thr205) Antibody
- Catalog number:
- abx000220
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Abbexa
- Gene target:
- MAPT (phospho-Thr205) Antibody
Related genes to: MAPT (phospho-Thr205) Antibody
- Gene:
- MAPT NIH gene
- Name:
- microtubule associated protein tau
- Previous symbol:
- DDPAC, MAPTL
- Synonyms:
- MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103
- Chromosome:
- 17q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
- Gene:
- STH NIH gene
- Name:
- saitohin
- Previous symbol:
- -
- Synonyms:
- MAPTIT
- Chromosome:
- 17q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2008-01-22
- Date modifiied:
- 2014-09-29
Related products to: MAPT (phospho-Thr205) Antibody
Related articles to: MAPT (phospho-Thr205) Antibody
- Neurodegenerative genes are critical in neuronal loss in Parkinson's disease (PD). We performed a systematic meta-analysis including all the studies published on PD risk related to genes encoding enzymes vital for dopamine metabolism and neuron survival. - Source: PubMed
Publication date: 2022/06/13
Li JiaxinYi MinhanLi BinbinYin ShujuanZhang YingHuang ZiniShu LiZhang Yuan - Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are characterized by intellectual disability, hypotonia, a friendly behavior, distinctive facial features, and epilepsy. Herein, we report a case of 2 girls who revealed global developmental delay, mild facial dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21.31 microdeletion detected by chromosomal microarray analysis (CMA). Conventional cytogenetics analysis by GTG-banding showed a female karyotype 46,XX for both girls. CMA revealed a microdeletion spanning approximately 500 kb in 17q21.31 in both girls, encompassing the following genes: , and . Haploinsufficiency of one or more of these genes within the deleted region is the most probable cause of the probands' phenotype and is responsible for the phenotype seen in KDVS. CMA is a powerful diagnostic tool and an effective method to identify the de novo 17q21.31 microdeletion associated with KDVS in our probands. - Source: PubMed
Publication date: 2017/02/24
Nascimento Gustavo RPinto Irene Pde Melo Aldaires Vda Cruz Damiana MRibeiro Cristiano Lda Silva Claudio Cda Cruz Aparecido DMinasi Lysa B - To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurrent rearrangement was a 17q21.31 microduplication, overlapping the CRHR1, MAPT, STH and KANSL1 genes that was found in four cases, including one de novo rearrangement, and was absent in controls. The increased MAPT gene dosage led to a 1.6-1.9-fold expression of the MAPT messenger RNA. Clinical signs, neuroimaging and cerebrospinal fluid biomarker profiles were consistent with an AD diagnosis in MAPT duplication carriers. However, amyloid positon emission tomography (PET) imaging, performed in three patients, was negative. Analysis of an additional case with neuropathological examination confirmed that the MAPT duplication causes a complex tauopathy, including prominent neurofibrillary tangle pathology in the medial temporal lobe without amyloid-β deposits. 17q21.31 duplication is the genetic basis of a novel entity marked by prominent tauopathy, leading to early-onset dementia with an AD clinical phenotype. This entity could account for a proportion of probable AD cases with negative amyloid PET imaging recently identified in large clinical series. - Source: PubMed
Publication date: 2016/12/13
Le Guennec KQuenez ONicolas GWallon DRousseau SRichard A-CAlexander JPaschou PCharbonnier CBellenguez CGrenier-Boley BLechner DBihoreau M-TOlaso RBoland AMeyer VDeleuze J-FAmouyel PMunter H MBourque GLathrop MFrebourg TRedon RLetenneur LDartigues J-FMartinaud OKalev OMehrabian STraykov LStröbel TLe Ber ICaroppo PEpelbaum SJonveaux TPasquier FRollin-Sillaire AGénin EGuyant-Maréchal LKovacs G GLambert J-CHannequin DCampion DRovelet-Lecrux A - Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking. Here, we report a patient in the fourth decade misdiagnosed in the past as classical Ehlers-Danlos syndrome for the presence of generalized joint hypermobility, who carried a 546-kb deletion in 17q21.31, and compare his phenotype with those of the few KdS adults (aged >18 years) described so far. We observed a favorable prognosis of epilepsy and cardiovascular signs and reduction of joint hypermobility with age, thus providing insight into the natural history of the disorder. - Source: PubMed
Publication date: 2016/11/17
Ciaccio ClaudiaDordoni ChiaraRitelli MarcoColombi Marina - The microtubule associated protein Tau (MAPT) promotes assembly and interaction of microtubules with the cytoskeleton, impinging on axonal transport and synaptic plasticity. Its neuronal expression and intrinsic disorder implicate it in some 30 tauopathies such as Alzheimer's disease and frontotemporal dementia. These pathophysiological studies have yet to be complemented by computational analyses of its molecular evolution and structural models of all its functional domains to explain the molecular basis for its conservation profile, its site-specific interactions and the propensity to conformational disorder and aggregate formation. - Source: PubMed
Publication date: 2016/03/31
Sündermann FrederikFernandez Maria-PilarMorgan Reginald O