About: Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis     Goto   Sponge   NotDistinct   Permalink

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  • The international research team studied expression pattern of lysosomal membrane protein NCL7 in normal mouse. This protein is targeted to the lysosomal system. Its function is presumed to be associated with transport processes. When mutated it leads to very serious neurological disorder called neuronal ceroid lipofuscinosis type 7 featured by extensive lysosomal storage of hydrophobic proteins. The Prague participation was requested as we could provide comparative study of neuropathology in human cases.
  • The international research team studied expression pattern of lysosomal membrane protein NCL7 in normal mouse. This protein is targeted to the lysosomal system. Its function is presumed to be associated with transport processes. When mutated it leads to very serious neurological disorder called neuronal ceroid lipofuscinosis type 7 featured by extensive lysosomal storage of hydrophobic proteins. The Prague participation was requested as we could provide comparative study of neuropathology in human cases. (en)
Title
  • Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
  • Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (en)
skos:prefLabel
  • Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
  • Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (en)
skos:notation
  • RIV/00064165:_____/10:7785!RIV11-MZ0-00064165
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 22
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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http://linked.open...dnocenehoVysledku
  • 258514
http://linked.open...ai/riv/idVysledku
  • RIV/00064165:_____/10:7785
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • NCL7 protein; expression pattern; lysosomal targeting; wild type mouse; neurolysosomal storage in humans (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [B7202C21DDDE]
http://linked.open...i/riv/nazevZdroje
  • Human Molecular Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
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http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 19
http://linked.open...iv/tvurceVysledku
  • Elleder, Milan
  • Hůlková, Helena
  • Kyttala, A.
  • Lehesjoki, AE
  • Bellenchi, GC
  • Darmon, M.
  • Debacker, C.
  • El Mestikawy, S.
  • Gasnier, B.
  • Jalanko, A.
  • Kousi, M.
  • Morel, L.
  • Ruivo, R.
  • Sagne, C.
  • Sharifi, A.
http://linked.open...ain/vavai/riv/wos
  • 000283673500018
http://linked.open...n/vavai/riv/zamer
issn
  • 0964-6906
number of pages
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