絞り込み

16404

広告

目標上積みの「タラノア対話」合意 (毎日新聞)

[PR] 温室ガス削減 「パリ協定」控え18年の1年間かけ実施へ 【ボン五十嵐和大】ドイツのボンで開催中の国連気候変動枠組み条約第23回締約国会議(COP23)...

  1. ドイツの温暖化会議で決議採択 - 福井新...
  2. 国内初の種類 恐竜の卵の化石を展示 山口...
  3. 温暖化、COP23大筋合意 先進国の削減...
  4. 本人望めば蘇生中止 消防庁委託研究班提言...

ニュース一覧

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

著者 Rossi G , Bastone A , Piccoli E , Morbin M , Mazzoleni G , Fugnanesi V , Beeg M , Del Favero E , Cantù L , Motta S , Salsano E , Pareyson D , Erbetta A , Elia A , Silani V , Morelli C , Salmona M , Tagliavini F
Neurobiol Aging.2013 Sep 6 ; ():.
この記事をPubMed上で見るPubMedで表示
この記事をGoogle翻訳上で見る Google翻訳で開く

Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. Electronic address: grossi@istituto-besta.it.

スターを付ける スターを付ける     (232view , 0users)

Full Text Sources

Miscellaneous

Microtubule-associated protein tau gene (MAPT) is one of the major genes linked to frontotemporal lobar degeneration, a group of neurodegenerative diseases clinically, pathologically, and genetically heterogeneous. In particular, MAPT mutations give rise to the subgroup of tauopathies. The pathogenetic mechanisms underlying the MAPT mutations so far described are the decreased ability of tau protein to promote microtubule polymerization (missense mutations) or the altered ratio of tau isoforms (splicing mutations), both leading to accumulation of hyperphosphorylated filamentous tau protein. Following a genetic screening of patients affected by frontotemporal lobar degeneration, we identified 2 MAPT mutations, V363I and V363A, leading to atypical clinical phenotypes, such as posterior cortical atrophy. We investigated in vitro features of the recombinant mutated tau isoforms and revealed unusual functional and structural characteristics such as an increased ability to promote microtubule polymerization and a tendency to form oligomeric instead of filamentous aggregates. Thus, we disclosed a greater than expected complexity of abnormal features of mutated tau isoforms. Overall our findings suggest a high probability that these mutations are pathogenic.
PMID: 24018212 [PubMed - as supplied by publisher]
印刷用ページを開く Endnote用テキストダウンロード