Search Results - "Aula, Pertti"

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era by Polvi, Anne, Linturi, Henna, Varilo, Teppo, Anttonen, Anna-Kaisa, Byrne, Myles, Fokkema, Ivo F.A.C., Almusa, Henrikki, Metzidis, Anthony, Avela, Kristiina, Aula, Pertti, Kestilä, Marjo, Muilu, Juha

“…ABSTRACT The Finnish Disease Heritage Database (FinDis) (http://findis.org) was originally published in 2004 as a centralized information resource for rare…”
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Identification of SLC7A7 , encoding y + LAT-1, as the lysinuric protein intolerance gene by Estévez, Raúl, Aula, Pertti, Pineda, Marta, Savontaus, Marja-Liisa, Zorzano, Antonio, Mykkänen, Juha, Reinikainen, Arja, Simell, Olli, Torrents, David, Feliubadaló, Lidia, Sanjurjo, Pablo, Huoponen, Kirsi, Palacín, Manuel, Cid, Rafael de, Nunes, Virginia

“…Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish…”
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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases by Verheijen, Frans W, Verbeek, Elly, Aula, Nina, Beerens, Cecile E.M.T, Havelaar, Adrie C, Joosse, Marijke, Peltonen, Leena, Aula, Pertti, Galjaard, Hans, van der Spek, Peter J, Mancini, Grazia M.S

“…Sialic acid storage diseases (SASD, MIM 269920) are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or a…”
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The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation by Aula, Nina, Salomäki, Pirjo, Timonen, Ritva, Verheijen, Frans, Mancini, Grazia, Månsson, Jan-Eric, Aula, Pertti, Peltonen, Leena

“…Lysosomal free sialic acid–storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid–storage disease (ISSD). The defective…”
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Neurocognitive profiles in Salla disease by Alajoki, Liisa, Varho, Tarja, Posti, Kristiina, Aula, Pertti, Korhonen, Tapio

“…Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease…”
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Phenotypic spectrum of Salla disease, a free sialic acid storage disorder by Varho, Tarja T., Alajoki, Liisa E., Posti, Kristiina M., Korhonen, Tapio T., Renlund, Martin G., Nyman, Samuel R.G., Sillanpää, Matti L., Aula, Pertti P.

“…Salla disease (MIM 269920) represents the mildest phenotype among recessively inherited lysosomal-free sialic acid storage disorders. Although the vast…”
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Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14 by Lauteala, Tuija, Sistonen, Pertti, Savontaus, Marja-Liisa, Mykkänen, Juha, Simell, Jaakko, Lukkarinen, Mari, Simell, Olli, Aula, Pertti

“…Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia…”
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Mutations in subunit 6 of the F1F0‐ATP synthase cause two entirely different diseases by Majander, Anna, Lamminen, Tarja, Juvonen, Vesa, Aula, Pertti, Nikoskelainen, Eeva, Savontaus, Marja-Liisa, Wikström, Mårten

“…A lowered efficiency of oxidative phosphorylation was recently found in a Leber hereditary optic neuropathy (LHON) proband carrying a mutation in the mtDNA…”
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Prenatal diagnosis of free sialic acid storage disorders (SASD) by Aula, Nina, Aula, Pertti

“…Free sialic acid storage disorders, Salla disease (SD) and Infantile sialic acid storage disease (ISSD), are lysosomal storage diseases due to impaired…”
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Database for the mutations of the Finnish disease heritage: Finnish Disease Mutations Database by Sipilä, Kati, Aula, Pertti

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Database for the mutations of the Finnish disease heritage by Sipilä, Kati, Aula, Pertti

“…The Finnish disease heritage refers to a group of monogenic diseases that are enriched in the Finnish population due to founder effect and genetic isolation…”
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Neurocognitive profiles in Salla disease by Alajoki, Liisa, Varho, Tarja, Posti, Kristiina, Aula, Pertti, Korhonen, Tapio

“…Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease…”
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Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin by Aula, Nina, Jalanko, Anu, Aula, Pertti, Peltonen, Leena

“…Salla disease (SD) and infantile sialic acid storage disease (ISSD) are recessively inherited, neuro-degenerative disorders caused by mutations in the SLC17A5…”
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Genes and languages in Europe: an analysis of mitochondrial lineages by Sajantila, A, Lahermo, P, Anttinen, T, Lukka, M, Sistonen, P, Savontaus, M L, Aula, P, Beckman, L, Tranebjaerg, L, Gedde-Dahl, T, Issel-Tarver, L, DiRienzo, A, Pääbo, S

“…When mitochondrial DNA sequence variation is analyzed from a sample of 637 individuals in 14 European populations, most populations show little differentiation…”
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Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples by Aula, P, Raivio, K, Autio, S

“…The activity of the glycoprotein degrading lysosomal hydrolase, 4-L-aspartylglycosylamine amido hydrolase (AAD Gase, EC.3.5.1.26), was measured in plasma,…”
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Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland by Meretoja, Päivi, Silander, Kaisa, Kalimo, Hannu, Aula, Pertti, Meretoja, Atte, Savontaus, Marja-Liisa

“…An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP) was carried out in south western Finland, with a population of 435…”
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Promoter analysis of the human SLC7A7 gene encoding y +L amino acid transporter-1 (y +LAT-1) by Mykkänen, Juha, Toivonen, Minna, Kleemola, Maaria, Savontaus, Marja-Liisa, Simell, Olli, Aula, Pertti, Huoponen, Kirsi

“…The human SLC7A7 gene on chromosome 14q11.2 encodes the y +L amino acid transporter-1 (y +LAT-1) protein that transports, together with the 4F2hc cell surface…”
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Expression of Normal and Mutant GFP-Tagged y+L Amino Acid Transporter-1 in Mammalian Cells by Toivonen, Minna, Mykkänen, Juha, Aula, Pertti, Simell, Olli, Savontaus, Marja-Liisa, Huoponen, Kirsi

“…Lysinuric protein intolerance (LPI; MIM 222700) is an autosomal recessive disorder characterized by defective transport of cationic amino acids lysine,…”
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Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI) by MYKKÄNEN, J, TORRENTS, D, SAVONTAUS, M.-L, ZORZANO, A, PALACIN, M, AULA, P, PINEDA, M, CAMPS, M, YOLDI, M. E, HORELLI-KUITUNEN, N, HUOPONEN, K, HEINONEN, M, OKSANEN, J, SIMELL, O

“…Lysinuric protein intolerance (LPI; MIM 222700) is an autosomal recessive disorder characterized by defective transport of the cationic amino acids lysine,…”
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Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies by Silander, Kaisa, Meretoja, Päivi, Juvonen, Vesa, Ignatius, Jaakko, Pihko, Helena, Saarinen, Ari, Wallden, Tiina, Herrgård, Eila, Aula, Pertti, Savontaus, Marja-Liisa

“…Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot‐Marie‐Tooth (CMT) disease types 1 and 2,…”
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