mucolipidosis type IV

出典: meddic

ムコリピドーシスIV型ムコ脂質症IV型

cherry red spot myoclonus syndromeI-cell diseasemucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type Imucolipidosis type IImucolipidosis type IIIpseudo-Hurler polydystrophysialidosis

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/07/25 15:49:25」(JST)

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英文文献

  • A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
  • Mirabelli-Badenier M1, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M.
  • Metabolic brain disease.Metab Brain Dis.2014 Aug 26. [Epub ahead of print]
  • Mucolipidosis type IV (MLIV) is a very rare disorder of late endosome/lysosome transport, characterized by neurodevelopmental abnormalities and progressive visual impairment owing to corneal clouding and retinal dystrophy. Greater than 70 % of MLIV patients are of Ashkenazi Jewish ancestry. Here we
  • PMID 25156245
  • A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.
  • Chen CC1, Keller M2, Hess M3, Schiffmann R4, Urban N5, Wolfgardt A6, Schaefer M5, Bracher F6, Biel M7, Wahl-Schott C7, Grimm C1.
  • Nature communications.Nat Commun.2014 Aug 14;5:4681. doi: 10.1038/ncomms5681.
  • Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder often characterized by severe neurodevelopmental abnormalities and neuro-retinal degeneration. Mutations in the TRPML1 gene are causative for MLIV. We used lead optimization strategies to identify-and MLIV patient fibr
  • PMID 25119295
  • Cellular Zinc Levels Are Modulated by TRPML1-TMEM163 Interaction.
  • Cuajungco MP1, Basilio LC, Silva J, Hart T, Tringali J, Chen CC, Biel M, Grimm C.
  • Traffic (Copenhagen, Denmark).Traffic.2014 Aug 6. doi: 10.1111/tra.12205. [Epub ahead of print]
  • Mucolipidosis type IV (MLIV) is caused by loss of function mutations in the TRPML1 ion channel. We previously reported that tissue zinc levels in MLIV were abnormally elevated; however, the mechanism behind this pathologic accumulation remains unknown. Here, we identify transmembrane (TMEM)-163 prot
  • PMID 25130899
  • Microvilli as markers of disordered apical-membrane trafficking and assembly: bowel and liver.
  • Thompson RJ1, Knisely AS.
  • Hepatology (Baltimore, Md.).Hepatology.2014 Jul;60(1):34-6. doi: 10.1002/hep.27148. Epub 2014 May 12.
  • PMID 24668851

和文文献

  • Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
  • TUYSUZ Beyhan,GOLDIN Ehud,METIN Baris,KORKMAZ Baris,YALCINKAYA Cengiz
  • Brain & development 31(9), 702-705, 2009-10-01
  • NAID 10026412825
  • Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

関連リンク

Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form ...
Mucolipidosis type IV (MLIV) is a lysosomal storage disorder characterized by severe neurological and ophthalmologic abnormalities due to defective transport of membrane components in the late endosomal-lysosomal pathway. 5-7 ...
Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. It is characterized by the presence of ...

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★リンクテーブル★
先読みcherry red spot myoclonus syndrome」「pseudo-Hurler polydystrophy」「mucolipidosis type III
リンク元ムコリピドーシスIV型」「mucolipidosis type II」「mucolipidosis type I」「ムコ脂質症IV型
関連記事type」「I」「typing」「IV」「typed

cherry red spot myoclonus syndrome」

  [★] さくらんぼ赤色斑ミオクローヌス症候群


pseudo-Hurler polydystrophy」

  [★] 偽性ハーラー・ポリジストロフィー

mucolipidosis type III」

  [★] ムコリピドーシスIII型

ムコリピドーシスIV型」

  [★]

mucolipidosis type IV、mucolipidosis IV
I細胞病ムコリピドーシスシアリドーシスムコ脂質症IV型ムコ脂質症I型ムコリピドーシスI型ムコ脂質症II型ムコリピドーシスII型ムコ脂質症III型ムコリピドーシスIII型、偽性ハーラー・・リジストロフィー、さくらんぼ赤色斑ミオクローヌス症候群ムコリピド症


mucolipidosis type II」

  [★]

ムコリピドーシスII型ムコ脂質症II型

cherry red spot myoclonus syndromeI-cell diseasemucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type Imucolipidosis type IIImucolipidosis type IVpseudo-Hurler polydystrophysialidosis


mucolipidosis type I」

  [★]

ムコリピドーシスI型ムコ脂質症I型

cherry red spot myoclonus syndromeI-cell diseasemucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type IImucolipidosis type IIImucolipidosis type IVpseudo-Hurler polydystrophysialidosis

ムコ脂質症IV型」

  [★]

mucolipidosis type IV
ムコリピドーシスIV型


type」

  [★]

  • n.
(windows)ファイル内容表示(linux -> cat])
ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
formmodepatterntype specimentyped

WordNet   license wordnet

「write by means of a keyboard with types; "type the acceptance letter, please"」
typewrite

WordNet   license wordnet

「a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"」

WordNet   license wordnet

「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

WordNet   license wordnet

「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

WordNet   license wordnet

「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

WordNet   license wordnet

「printed characters; "small type is hard to read"」

WordNet   license wordnet

「identify as belonging to a certain type; "Such people can practically be typed"」
typecast

PrepTutorEJDIC   license prepejdic

「〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ」


I」

  [★]

WordNet   license wordnet

「the 9th letter of the Roman alphabet」
i

PrepTutorEJDIC   license prepejdic

「『私は』私が」

PrepTutorEJDIC   license prepejdic

「iodineの化学記号」

typing」

  [★]

  • n.
  • タイプで打つこと、タイピング。分類


WordNet   license wordnet

「writing done with a typewriter」
typewriting

IV」

  [★]

  • adj.
  • 静脈内の
i.v.intravascularintravenousintravenously


typed」

  [★]

  • adj.
  • 型の
formmodepatterntype



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