VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD
Tresse, Emilie, Salomons, Florian A., Vesa, Jouni, Bott, Laura C., Kimonis, Virginia, Yao, Tso-Pang, Dantuma, Nico P., Taylor, J. Paul
Published in Autophagy (16.02.2010)
Published in Autophagy (16.02.2010)
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Journal Article
VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease
Badadani, Mallikarjun, Nalbandian, Angèle, Watts, Giles D, Vesa, Jouni, Kitazawa, Masashi, Su, Hailing, Tanaja, Jasmin, Dec, Eric, Wallace, Douglas C, Mukherjee, Jogeshwar, Caiozzo, Vincent, Warman, Matthew, Kimonis, Virginia E
Published in PloS one (05.10.2010)
Published in PloS one (05.10.2010)
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Journal Article
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
Isosomppi, Juha, Vesa, Jouni, Jalanko, Anu, Peltonen, Leena
Published in Human molecular genetics (15.04.2002)
Published in Human molecular genetics (15.04.2002)
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Journal Article
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts
Vesa, Jouni, Su, Hailing, Watts, Giles D, Krause, Sabine, Walter, Maggie C, Martin, Barbara, Smith, Charles, Wallace, Douglas C, Kimonis, Virginia E
Published in Neuromuscular disorders : NMD (01.11.2009)
Published in Neuromuscular disorders : NMD (01.11.2009)
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Journal Article
Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin
Minye, Helena M., Fabritius, Anna-Liisa, Vesa, Jouni, Peltonen, Leena
Published in Data in brief (01.09.2016)
Published in Data in brief (01.09.2016)
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Journal Article
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
Kopra, Outi, Vesa, Jouni, von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, Rapola, Juhani, Diggelen, Otto P. van, Saarela, Janna, Jalanko, Anu, Peltonen, Leena
Published in Human molecular genetics (01.12.2004)
Published in Human molecular genetics (01.12.2004)
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Journal Article
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
Vesa, Jouni, Hellsten, Elina, Verkruyse, Linda A, Camp, Laura A, Rapola, Juhani, Santavuori, Pirkko, Hofmann, Sandra L, Peltonen, Leena
Published in Nature (London) (17.08.1995)
Published in Nature (London) (17.08.1995)
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Journal Article
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
Mee, Lisa, Honkala, Heli, Kopra, Outi, Vesa, Jouni, Finnilä, Saara, Visapää, Ilona, Sang, Tzu-Kang, Jackson, George R., Salonen, Riitta, Kestilä, Marjo, Peltonen, Leena
Published in Human molecular genetics (01.06.2005)
Published in Human molecular genetics (01.06.2005)
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Journal Article
Mice with Ppt1Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
Jalanko, Anu, Vesa, Jouni, Manninen, Tuula, von Schantz, Carina, Minye, Helena, Fabritius, Anna-Liisa, Salonen, Tarja, Rapola, Juhani, Gentile, Massimiliano, Kopra, Outi, Peltonen, Leena
Published in Neurobiology of disease (01.02.2005)
Published in Neurobiology of disease (01.02.2005)
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Journal Article
The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis
Nalbandian, Angèle, Donkervoort, Sandra, Dec, Eric, Badadani, Mallikarjun, Katheria, Veeral, Rana, Prachi, Nguyen, Christopher, Mukherjee, Jogeshwar, Caiozzo, Vincent, Martin, Barbara, Watts, Giles D., Vesa, Jouni, Smith, Charles, Kimonis, Virginia E.
Published in Journal of molecular neuroscience (01.11.2011)
Published in Journal of molecular neuroscience (01.11.2011)
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Journal Article
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments
Uusi-Rauva, Kristiina, Kyttälä, Aija, van der Kant, Rik, Vesa, Jouni, Tanhuanpää, Kimmo, Neefjes, Jacques, Olkkonen, Vesa M., Jalanko, Anu
Published in Cellular and molecular life sciences : CMLS (01.06.2012)
Published in Cellular and molecular life sciences : CMLS (01.06.2012)
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Journal Article
A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse
Nalbandian, Angèle, Llewellyn, Katrina J, Badadani, Mallikarjun, Yin, Hong Z, Nguyen, Christopher, Katheria, Veeral, Watts, Giles, Mukherjee, Jogeshwar, Vesa, Jouni, Caiozzo, Vincent, Mozaffar, Tahseen, Weiss, John H, Kimonis, Virginia E
Published in Muscle & nerve (01.02.2013)
Published in Muscle & nerve (01.02.2013)
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Journal Article
A progressive translational mouse model of human valosin-containing protein disease: The VCPR155H/+ mouse
Nalbandian, Angèle, Llewellyn, Katrina J., Badadani, Mallikarjun, Yin, Hong Z., Nguyen, Christopher, Katheria, Veeral, Watts, Giles, Mukherjee, Jogeshwar, Vesa, Jouni, Caiozzo, Vincent, Mozaffar, Tahseen, Weiss, John H., Kimonis, Virginia E.
Published in Muscle & nerve (01.02.2013)
Published in Muscle & nerve (01.02.2013)
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Journal Article
In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics
Nalbandian, Angèle, Llewellyn, Katrina J, Gomez, Arianna, Walker, Naomi, Su, Hailing, Dunnigan, Andrew, Chwa, Marilyn, Vesa, Jouni, Kenney, M C, Kimonis, Virginia E
Published in Mitochondrion (01.05.2015)
Published in Mitochondrion (01.05.2015)
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Journal Article
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
Su, Hailing, Fan, Weiwei, Coskun, Pinar E., Vesa, Jouni, Gold, June-Anne, Jiang, Yong-Hui, Potluri, Prasanth, Procaccio, Vincent, Acab, Allan, Weiss, John H., Wallace, Douglas C., Kimonis, Virginia E.
Published in Neuroscience letters (07.01.2011)
Published in Neuroscience letters (07.01.2011)
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Journal Article
GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
Visapää, Ilona, Fellman, Vineta, Vesa, Jouni, Dasvarma, Ayan, Hutton, Jenna L., Kumar, Vijay, Payne, Gregory S., Makarow, Marja, Van Coster, Rudy, Taylor, Robert W., Turnbull, Douglass M., Suomalainen, Anu, Peltonen, Leena
Published in American journal of human genetics (01.10.2002)
Published in American journal of human genetics (01.10.2002)
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