Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain

Autor: Esther Stroo, Leen Janssen, Olga Sin, Wytse Hogewerf, Mirjam Koster, Liesbeth Harkema, Sameh A Youssef, Natalie Beschorner, Anouk HG Wolters, Bjorn Bakker, Lore Becker, Lilian Garrett, Susan Marschall, Sabine M Hoelter, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, Amantha Thathiah, Floris Foijer, Bart van de Sluis, Jan van Deursen, Matthias Jucker, Alain de Bruin, Ellen AA Nollen

Publikováno v: Life science alliance 6(7), e202201730 (2023). doi:10.26508/lsa.202201730

In age-related neurodegenerative diseases, like Alzheimer’s and Parkinson’s, disease-specific proteins become aggregation-prone and form amyloid-like deposits. Depletion of SERF proteins ameliorates this toxic process in worm and human cell model

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba2dc28445569fccfa99cc8b093ea779
https://pub.dzne.de/record/257883

The porcine cerebellin gene family

Autor: Knud Larsen

Publikováno v: Larsen, K 2021, ' The porcine cerebellin gene family ', Gene, vol. 799, pp. 145852 . https://doi.org/10.1016/j.gene.2021.145852
Larsen, K 2021, ' The porcine cerebellin gene family ', Gene, vol. 799, 145852 . https://doi.org/10.1016/j.gene.2021.145852

Cerebellins (CBLN1–4), together with C1qTNF proteins, belong to the CBLN subfamily of C1q proteins. Cerebellin-1 (CBLN1) is active in synapse formation and functions at the parallel fiber-Purkinje cell synapses. Cerebellins form tripartite complexe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f57e43a8bafd89e3426faaca771c0c
https://pubmed.ncbi.nlm.nih.gov/34274480

Prenatal neural origins of infant motor development

Autor: Moriah E. Thomason, Jasmine L. Hect, Roberto Romero, Ann M. Stacks, Rebecca Waller, Janessa H. Manning, Marion I. van den Heuvel, Jordan L. Boeve, Sonia S. Hassan, Marjorie Beeghly, Edgar Hernandez-Andrade, Kristyn Wong

Publikováno v: Development and Psychopathology, 30(3), 763-772. CAMBRIDGE UNIV PRESS

Functional circuits of the human brain emerge and change dramatically over the second half of gestation. It is possible that variation in neural functional system connectivity in utero predicts individual differences in infant behavioral development,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1baa1ece975fdea3bba10aa3718504
https://doi.org/10.1017/s095457941800072x

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment

Autor: Benjamin M. Neale, Merete Nordentoft, Ron Nudel, Malene Revsbech Christiansen, David M. Hougaard, Marianne Giørtz Pedersen, Olivier Delaneau, Jonas Bybjerg-Grauholm, Michael J. Gandal, Alfonso Buil, Wesley K. Thompson, Preben Bo Mortensen, Carsten Bøcker Pedersen, Thomas Werge, Marie Bækved-Hansen, Hyejung Won, Esben Agerbo, Daniel H. Geschwind, Vivek Appadurai, Andrew J. Schork, Mark J. Daly, Naomi R. Wray, Anders D. Børglum, Ole Mors

Publikováno v: Nature neuroscience, vol 22, iss 3
Schork, A J, Won, H, Appadurai, V, Nudel, R, Gandal, M, Delaneau, O, Revsbech Christiansen, M, Hougaard, D M, Bækved-Hansen, M, Bybjerg-Grauholm, J, Giørtz Pedersen, M, Agerbo, E, Bøcker Pedersen, C, Neale, B M, Daly, M J, Wray, N R, Nordentoft, M, Mors, O, Børglum, A D, Bo Mortensen, P, Buil, A, Thompson, W K, Geschwind, D H & Werge, T 2019, ' A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment ', Nature Neuroscience, vol. 22, no. 3, pp. 353-361 . https://doi.org/10.1038/s41593-018-0320-0
Schork, A J, Won, H, Appadurai, V, Nudel, R, Gandal, M, Delaneau, O, Revsbech Christiansen, M, Hougaard, D M, Bækved-Hansen, M, Bybjerg-Grauholm, J, Giørtz Pedersen, M, Agerbo, E, Bøcker Pedersen, C, Neale, B M, Daly, M J, Wray, N R, Nordentoft, M, Mors, O, Børglum, A D, Bo Mortensen, P, Buil, A, Thompson, W K, Geschwind, D H & Werge, T 2019, ' A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment ', Nature Neuroscience, vol. 22, pp. 353-361 . https://doi.org/10.1038/s41593-018-0320-0

There is mounting evidence that seemingly diverse psychiatric disorders share genetic etiology, but the biological substrates mediating this overlap are not well characterized. Here we leverage the unique Integrative Psychiatric Research Consortium (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4422b6e542e01df2c22e2777e621b59
https://escholarship.org/uc/item/3qm536px

Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development

Autor: Hugues Henry, Elidie Béard, Layane Hanna-El-Daher, Liliane Tenenbaum, Olivier Braissant

Publikováno v: Neurobiology of Disease, Vol 79, Iss, Pp 14-27 (2015)
Neurobiology of Disease, vol. 79, pp. 14-27

Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf7687b863583faf1bb48442403ebc2
http://www.sciencedirect.com/science/article/pii/S0969996115001266