lab

Molecular and cellular mechanisms underlying neurodevelopmental disorders

Lab Members

Ype Elgersma
Prof.Dr. Ype Elgersma (Y)
Full Professor
Lab Head
Ben Distel
Ben Distel
Associate Professor
Edwin Mientjes
Dr. Edwin Mientjes
Postdoctoral Fellow
Diana Rotaru
Diana Rotaru
Postdoctoral Fellow
Rosella Avagliano Trezza
Dr. Rosella Avagliano Trezza
Postdoctoral Fellow
Mattijs Punt
Mattijs Punt
Phd Student
Stijn Bossuyt
Stijn Bossuyt
Phd Student
Linda Koene
Linda Koene
Phd Student
Andre Rietman
Drs Andre Rietman
Phd Student
Monica Sonzogni
Monica Sonzogni
Phd Student
Isabella Zampeta
Isabella Zampeta
Phd Student
Jesminne Castricum
Jesminne Castricum
Phd Student
Myrthe Ottenhoff
Myrthe Ottenhoff
Phd Student
Malika Diabaté
Malika Diabaté
Master student
Teja Kakunuri
Teja Kakunuri
Master Student
Maud de Vries
Maud de Vries
Master Student
Ilse Wallaard
Ilse Wallaard
Research Technician
Minetta Elgersma Hooisma
Minetta Elgersma Hooisma
Research Technician
Mehrnoush Aghadavoud Jolfaei
Mehrnoush Aghadavoud Jolfaei
Research Technician
Charlotte de Konink
Charlotte de Konink
Research Technician

Recent Publications

Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome.

Wang T, van Woerden GM, Elgersma Y, Borst JGG
in Frontiers in cellular neuroscience 2018

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).

Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, Ten Hoopen LW, van Minkelen R, Elgersma Y, Catsman-Berrevoets CE, Oostenbrink R, Legerstee JS
in Journal of autism and developmental disorders 2018

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA
in Molecular psychiatry 2018

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel mutants.

Sonzogni M, Wallaard I, Santos SS, Kingma J, du Mee D, van Woerden GM, Elgersma Y
in Molecular autism 2018

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Küry S, Elgersma Y, van Woerden GM
in Hum Mutat 2018

Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome

Improvement of ubiquitylation site detection by Orbitrap mass spectrometry

van der Wal L, Bezstarosti K, Sap KA, Dekkers DHW, Rijkers E, Mientjes E, Elgersma Y, Demmers JAA
in J Proteomics 2018

Regulating the human HECT E3 ligases.

Sluimer J, Distel B
in Cellular and molecular life sciences : CMLS 2018

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF, Kousi M, van Woerden GM, Klein M, Bralten J, Mancini GMS, van Essen T, Proietti-Onori M, Smeets EEJ, van Gastel M, Stegmann APA, Stevens SJC, Lelieveld SH, Gilissen C, Pfundt R, Tan PL, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner HG
in Nature communications 2017

A brain proteomic investigation of rapamycin effects in the mouse model.

Wesseling H, Elgersma Y, Bahn S
in Molecular autism 2017

Ub3a loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.

Wallace ML, van Woerden GM, Elgersma Y, Smith SL, Philpot BD
in Journal of neurophysiology 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S
in Am J Hum Genet 2017

A versatile plasmid system for reconstitution and analysis of mammalian ubiquitination cascades in yeast.

Avagliano Trezza R, van den Burg J, van den Oever N, Distel B
in Microbial cell (Graz, Austria) 2017

Dynamic modulation of activity in cerebellar nuclei neurons during pavlovian eyeblink conditioning in mice.

Ten Brinke MM, Heiney SA, Wang X, Proietti-Onori M, Boele HJ, Bakermans J, Medina JF, Gao Z, De Zeeuw CI
in eLife 2017

Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1.

Rietman AB, van der Vaart T, Plasschaert E, Nicholson BA, Oostenbrink R, Krab LC, Descheemaeker MJ, Wit MY, Moll HA, Legius E, Nijs PFA
in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017
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Vacancies

There are currently no vacancies on our lab.