Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Aija Kyttälä"'
Autor:
Tea Blom, Kristiina Uusi-Rauva, Carina von Schantz-Fant, Aija Kyttälä, Anu Jalanko, Tomas Blom
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 18, Iss 5, p 955 (2017)
International Journal of Molecular Sciences; Volume 18; Issue 5; Pages: 955
International Journal of Molecular Sciences, Vol 18, Iss 5, p 955 (2017)
International Journal of Molecular Sciences; Volume 18; Issue 5; Pages: 955
Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive progressive encephalopathies caused by mutations in at least 14 different genes. Despite extensive studies performed in different NCL animal models, the molecular mechanisms underlying neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78844b162194051a0eb05cc9dbfa451
http://hdl.handle.net/10138/203371
http://hdl.handle.net/10138/203371
Autor:
Outi Kopra, Sanna Marjavaara, Anu Suomalainen, Kristiina Uusi-Rauva, Annina Lyly, Nisse Kalkkinen, Matti Jauhiainen, Kimmo Tanhuanpää, Anu Jalanko, Aija Kyttälä, Laurent O. Martinez, Kaisu Luiro
Publikováno v:
Human Molecular Genetics. 17:1406-1417
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disease caused by deficiency of palmitoyl protein thioesterase 1 (PPT1). INCL results in dramatic loss of thalamocortical neurons, but the disease mechanism has remained el
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762(10):920-933
Neuronal ceroid lipofucinoses (NCLs) are a group of severe neurodegenerative disorders characterized by accumulation of autofluorescent ceroid lipopigment in patients' cells. The different forms of NCL share many similar pathological features but res
Publikováno v:
Traffic. 5:946-962
The adaptor protein complex AP-3 is involved in the sorting of lysosomal membrane proteins to late endosomes/lysosomes. It is unclear whether AP-3-containing vesicles form at the trans-Golgi network (TGN) or early endosomes. We have compared the traf
Publikováno v:
Molecular Biology of the Cell. 15:1313-1323
Batten disease is a neurodegenerative disorder resulting from mutations in CLN3, a polytopic membrane protein, whose predominant intracellular destination in nonneuronal cells is the lysosome. The topology of CLN3 protein, its lysosomal targeting mec
Autor:
Michael W. Hess, Anu Jalanko, Aija Kyttälä, O. Heinonen, Maarit Lehtovirta, Eeva-Liisa Eskelinen
Publikováno v:
Human Molecular Genetics. 10:69-75
A deficiency of palmitoyl protein thioesterase (PPT) leads to the neurodegenerative disease infantile neuronal ceroid lipofuscinosis (INCL), which is characterized by an almost complete loss of cortical neurons. PPT expressed in COS-1 cells is recogn
Publikováno v:
University of Helsinki
Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopathy of childhood, is caused by mutations in a novel lysosomal membrane protein (CLN3) with unknown function. In this study, we have confirme
Autor:
Raquel Ruivo, Anu Jalanko, Lydie Morel, Maria Kousi, Helena Hůlková, Gian Carlo Bellenchi, Anna-Elina Lehesjoki, Corinne Sagné, Aija Kyttälä, Milan Elleder, Cécile Debacker, Bruno Gasnier, S. El Mestikawy, Azita Sharifi, Michèle Darmon
Publikováno v:
Human molecular genetics
19 (2010): 4497–4514. doi:10.1093/hmg/ddq381
info:cnr-pdr/source/autori:Sharifi A.; Kousi M.; Sagné C.; Bellenchi G.C.; Morel L.; Darmon M.; Hulková H.; Ruivo R.; Debacker C.; El Mestikawy S.; Elleder M.; Lehesjoki A.E.; Jalanko A.; Gasnier B.; Kyttälä A./titolo:Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis/doi:10.1093%2Fhmg%2Fddq381/rivista:Human molecular genetics (Print)/anno:2010/pagina_da:4497/pagina_a:4514/intervallo_pagine:4497–4514/volume:19
19 (2010): 4497–4514. doi:10.1093/hmg/ddq381
info:cnr-pdr/source/autori:Sharifi A.; Kousi M.; Sagné C.; Bellenchi G.C.; Morel L.; Darmon M.; Hulková H.; Ruivo R.; Debacker C.; El Mestikawy S.; Elleder M.; Lehesjoki A.E.; Jalanko A.; Gasnier B.; Kyttälä A./titolo:Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis/doi:10.1093%2Fhmg%2Fddq381/rivista:Human molecular genetics (Print)/anno:2010/pagina_da:4497/pagina_a:4514/intervallo_pagine:4497–4514/volume:19
Neuronal ceroid lipofuscinoses (NCLs) constitute a group of progressive neurodegenerative disorders resulting from mutations in at least eight different genes. Mutations in the most recently identified NCL gene, MFSD8/CLN7, underlie a variant of late
Autor:
Outi Kopra, Kaisu Luiro, Kimmo Tanhuanpää, Kristiina Uusi-Rauva, Pablo Martín-Vasallo, Aija Kyttälä, Anu Jalanko
Publikováno v:
Experimental cell research. 314(15)
Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease) is the most common progressive neurodegenerative disorder of childhood. CLN3, the transmembrane protein underlying JNCL, is proposed to participate in multiple cellular events including m
Autor:
Irma Järvelä, Anu Jalanko, Kristiina Yliannala, Kaisu Luiro, Aija Kyttälä, Laura Ahtiainen, Heidi Maunu
Publikováno v:
Human molecular genetics. 13(23)
The endosomal/lysosomal transmembrane protein CLN3 is mutated in the Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL). However, the molecular mechanism of JNCL pathogenesis and the exact function of the CLN3 protein have remained unclea