Anni Laari
University of Helsinki
5 Papers
Anni Laari is an academic researcher from University of Helsinki. The author has contributed to research in topics: Exome sequencing & Missense mutation. The author has an hindex of 4, co-authored 5 publications. Previous affiliations of Anni Laari include Graduate University for Advanced Studies.
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Papers
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Mikko Muona,Ryosuke Ishimura,Ryosuke Ishimura,Anni Laari,Yoshinobu Ichimura,Tarja Linnankivi,Riikka Keski-Filppula,Riikka Keski-Filppula,Riitta Herva,Heikki Rantala,Heikki Rantala,Anders Paetau,Minna Pöyhönen,Miki Obata,Takefumi Uemura,Thomas Karhu,Norihisa Bizen,Hirohide Takebayashi,Shane McKee,Michael Parker,Nadia Akawi,Jeremy F. McRae,Matthew E. Hurles,Outi Kuismin,Outi Kuismin,Mitja I. Kurki,Anna-Kaisa Anttonen,Keiji Tanaka,Aarno Palotie,Satoshi Waguri,Anna-Elina Lehesjoki,Masaaki Komatsu +31 more
TL;DR: Exome sequencing in Finnish individuals with severe epileptic syndromes and cellular analyses imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy, suggesting that the UFM1 system is essential for CNS development and function.
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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy
Mikko Muona,Yuko Fukata,Anna-Kaisa Anttonen,Anni Laari,Aarno Palotie,Helena Pihko,Tuula Lönnqvist,Leena Valanne,Mirja Somer,Masaki Fukata,Anna-Elina Lehesjoki +10 more
TL;DR: The mutations identified abolish the LGI1-ADAM22 ligand-receptor complex and are thus a likely primary cause of the proband's epilepsy syndrome, which is characterized by unusually rapidly progressing cortical atrophy starting at 3–4 months of age.
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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Anna-Kaisa Anttonen,Anni Laari,Maria Kousi,Yawei J. Yang,Tiina Jääskeläinen,Mirja Somer,Eija Siintola,Eveliina Jakkula,Mikko Muona,Saara Tegelberg,Tuula Lönnqvist,Helena Pihko,Leena Valanne,Anders Paetau,Melody P. Lun,Johanna Hästbacka,Outi Kopra,Tarja Joensuu,Nicholas Katsanis,Maria K. Lehtinen,Jorma J. Palvimo,Anna-Elina Lehesjoki +21 more
TL;DR: It is suggested that loss-of-function of a nuclear regulator protein underlies PEHO syndrome and imply that establishment of its spatiotemporal interaction targets will be the basis for developing therapeutic approaches and for improved understanding of cerebellar development.
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Viivi Nevanlinna,Svetlana Konovalova,Berten Ceulemans,Mikko Muona,Anni Laari,Taru Hilander,Katarin Gorski,Leena Valanne,Anna-Kaisa Anttonen,Henna Tyynismaa,Carolina Courage,Anna-Elina Lehesjoki +11 more
TL;DR: The study highlights the challenges in clinical diagnosis of patients with neonatal and early infantile encephalopathies with overlapping clinical features and brain MRI findings.
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate
Anna-Kaisa Anttonen,Taru Hilander,Tarja Linnankivi,Pirjo Isohanni,Rachel L. French,Yuchen Liu,Miljan Simonović,Dieter Söll,Mirja Somer,Dorota Muth-Pawlak,Garry L. Corthals,Garry L. Corthals,Anni Laari,Emil Ylikallio,Marja Lähde,Leena Valanne,Tuula Lönnqvist,Helena Pihko,Anders Paetau,Anna-Elina Lehesjoki,Anu Suomalainen,Henna Tyynismaa +21 more
TL;DR: The results extend the phenotypes caused by defective selenocysteine biosynthesis, and suggest SEPSECS as a candidate gene for progressive encephalopathies with lactate elevation, with suggested increase in oxidative protein damage in the patient brain.