MAPT S320Y

MUTATIONS MAPT Exon 11 Point, Missense Coding Unknown. Unknown. S320Y Other Tauopathy: PathogenicTauopathy consistent with Pick's Disease Limited information is available about this mutation, but it is mentioned in reviews describing MAPT mutations (D'Sou

MAPT S320F

MUTATIONS MAPT 44091652 GRCh37/hg19 rs63750635 C T g.127687C> T g.124866C> T Exon 11 Point, Missense Coding A marked reduction in the ability of tau to promote microtubule assembly; Removal of a potential phosphorylation site in tau. Neuropathology consistent

MAPT K317M

MUTATIONS MAPT 44091643 GRCh37/hg19 rs63750092 A T g.127678A> T g.124857A> T Exon 11 Point, Missense Coding Mutant mouse brain homogenates induced seeding and spreading of 4R and 3R tau in wildtype mouse brains. Severe degeneration of the substantia nigra wit

MAPT L315L

MUTATIONS MAPT 44091638 GRCh37/hg19 rs63751231 G A g.127673G> A g.124852G> A Exon 11 Point, Silent Coding Unknown. Unknown. L315L Frontotemporal Dementia: Not ClassifiedFrontotemporal Dementia Little is known about this silent mutation, but it has been mentio

MAPT L315R

MUTATIONS MAPT 44091637 GRCh37/hg19 rs63749855 T G g.127672T> G g.124851T> G Exon 11 Point, Missense Coding Recombinant L315R tau protein has a compromised ability to promote microtubule assembly. Extensive tau pathology in neurons (Pick-like inclusions) and

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PAPER Li NN, Mao XY, Chang XL, Zhao DM, Zhang JH, Liao Q, Yu WJ, Tan EK, Peng R

SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic Chinese.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):452-6. PubMed: 23737253

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Subthalamic hGAD65 gene therapy and striatum TH gene transfer in a Parkinson's disease rat model.

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Altered functional connectivity in an aged rat model of postoperative cognitive dysfunction: a study using resting-state functional MRI.

PLoS One. 2013;8(5):e64820. PubMed: 23738003

PAPER Apolloni S, Amadio S, Montilli C, Volonté C, D'Ambrosi N

Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis.

Hum Mol Genet. 2013 Jun 13; PubMed: 23736299

PAPER Loizzo S, Rimondini R, Travaglione S, Fabbri A, Guidotti M, Ferri A, Campana G, Fiorentini C

CNF1 increases brain energy level, counteracts neuroinflammatory markers and rescues cognitive deficits in a murine model of Alzheimer's disease.

PLoS One. 2013;8(5):e65898. PubMed: 23738020

PAPER Swarup V, Srivastava AK, Padma MV, Moganty RR

Quantitative Profiling and Identification of Plasma Proteins of Spinocerebellar Ataxia Type 2 Patients.

Neurodegener Dis. 2013 May 31; PubMed: 23735416

PAPER Liot G, Zala D, Pla P, Mottet G, Piel M, Saudou F

Mutant Huntingtin alters retrograde transport of TrkB receptors in striatal dendrites.

J Neurosci. 2013 Apr 10;33(15):6298-309. PubMed: 23575829