Publications by authors named "Mari Sepp"

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Oncogene aberrations drive medulloblastoma progression, not initiation.
Konstantin Okonechnikov, Piyush Joshi, Verena Körber, Anne Rademacher, Michele Bortolomeazzi, Mari Sepp

Nature· June 2025

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Conference Report: Cerebellar Development and Disease at Single-Cell Resolution.
Lena M Kutscher, Davide Aprile, N Sumru Bayin, Esther B E Becker, Valentina Cerrato, Mari Sepp, Giuseppe Testa

Cerebellum· June 2025

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Developmental origins and evolution of pallial cell types and structures in birds.
Bastienne Zaremba, Amir Fallahshahroudi, Céline Schneider, Julia Schmidt, Ioannis Sarropoulos, Mari Sepp

Science· January 2025

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Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E Schouw, Chiara Lukasch, Luca Bianchini, Mari Sepp

Neurobiol Dis· September 2024

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Cellular development and evolution of the mammalian cerebellum.
Mari Sepp, Kevin Leiss, Florent Murat, Konstantin Okonechnikov, Piyush Joshi

Nature· January 2024

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Mapping pediatric brain tumors to their origins in the developing cerebellum.
Konstantin Okonechnikov, Piyush Joshi, Mari Sepp, Kevin Leiss, Ioannis Sarropoulos

Neuro Oncol· October 2023

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A lamprey neural cell type atlas illuminates the origins of the vertebrate brain.
Francesco Lamanna, Francisca Hervas-Sotomayor, A Phillip Oel, David Jandzik, Daniel Sobrido-Cameán, Mari Sepp

Nat Ecol Evol· October 2023

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Publisher Correction: A lamprey neural cell type atlas illuminates the origins of the vertebrate brain.
Francesco Lamanna, Francisca Hervas-Sotomayor, A Phillip Oel, David Jandzik, Daniel Sobrido-Cameán, Mari Sepp

Nat Ecol Evol· October 2023

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The molecular evolution of spermatogenesis across mammals.
Florent Murat, Noe Mbengue, Sofia Boeg Winge, Timo Trefzer, Evgeny Leushkin, Mari Sepp

Nature· January 2023

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Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.
Alex Sirp, Kaisa Roots, Kaja Nurm, Jürgen Tuvikene, Mari Sepp

J Biol Chem· December 2021

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Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington's Disease.
Kaja Nurm, Mari Sepp, Carla Castany-Pladevall, Jordi Creus-Muncunill, Jürgen Tuvikene

eNeuro· October 2021

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Developmental and evolutionary dynamics of cis-regulatory elements in mouse cerebellar cells.
Ioannis Sarropoulos, Mari Sepp, Robert Frömel, Kevin Leiss, Nils Trost

Science· August 2021

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The Fuchs corneal dystrophy-associated CTG repeat expansion in the TCF4 gene affects transcription from its alternative promoters.
Alex Sirp, Kristian Leite, Jürgen Tuvikene, Kaja Nurm, Mari Sepp

Sci Rep· October 2020

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Daughterless, the orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome.
Laura Tamberg, Mariliis Jaago, Kristi Säälik, Alex Sirp, Jürgen Tuvikene, Mari Sepp

Dis Model Mech· July 2020

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Neuralized family member NEURL1 is a ubiquitin ligase for the cGMP-specific phosphodiesterase 9A.
Kati Taal, Jürgen Tuvikene, Grete Rullinkov, Marko Piirsoo, Mari Sepp

Sci Rep· May 2019

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The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A.
Mari Sepp, Hanna Vihma, Kaja Nurm, Mari Urb, Stephanie Cerceo Page

J Neurosci· October 2017

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Characterization of the nuclear matrix targeting sequence (NMTS) of the BPV1 E8/E2 protein--the shortest known NMTS.
Eve Sankovski, Kristiina Karro, Mari Sepp, Reet Kurg, Mart Ustav

Nucleus· June 2016

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Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment.
Lukasz P Slomnicki, Agata Malinowska, Michal Kistowski, Antoni Palusinski, Jing-Juan Zheng, Mari Sepp

Mol Cell Proteomics· June 2016

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Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.
Mira Kharbanda, Kaja Kannike, Anne Lampe, Jonathan Berg, Tõnis Timmusk, Mari Sepp

Eur J Med Genet· June 2016

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Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.
Laura Tamberg, Mari Sepp, Tõnis Timmusk, Mari Palgi

Biol Open· November 2015

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Forkhead transcription factor FOXO3a levels are increased in Huntington disease because of overactivated positive autofeedback loop.
Kaja Kannike, Mari Sepp, Chiara Zuccato, Elena Cattaneo, Tõnis Timmusk

J Biol Chem· November 2014

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BAC-based cellular model for screening regulators of BDNF gene transcription.
Kaur Jaanson, Mari Sepp, Tamara Aid-Pavlidis, Tõnis Timmusk

BMC Neurosci· June 2014

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Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Mari Sepp, Priit Pruunsild, Tõnis Timmusk

Hum Mol Genet· July 2012

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Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.
Mari Sepp, Kaja Kannike, Ave Eesmaa, Mari Urb, Tõnis Timmusk

PLoS One· November 2011

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Identification of cis-elements and transcription factors regulating neuronal activity-dependent transcription of human BDNF gene.
Priit Pruunsild, Mari Sepp, Ester Orav, Indrek Koppel, Tõnis Timmusk

J Neurosci· March 2011

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