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
Diana Rotaru
Diana Rotaru
Postdoctoral Fellow
Annelot van Esbroeck
Annelot van Esbroeck
Postdoctoral Fellow
Edwin Mientjes
Dr. Edwin Mientjes
Postdoctoral Fellow
Eva Niggl
Eva Niggl
Phd Student
Isabella Zampeta
Isabella Zampeta
Phd Student
Myrthe Ottenhoff
Myrthe Ottenhoff
Phd Student
Mattijs Punt
Mattijs Punt
Phd Student
Linda Koene
Linda Koene
Phd Student
Monica Sonzogni
Monica Sonzogni
Phd Student
Claudia Milazzo
Claudia Milazzo
Phd Student
Jesminne Castricum
Jesminne Castricum
Phd Student
Ilse Wallaard
Ilse Wallaard
Research Technician
Ilona de Graaf
Ilona de Graaf
Research Assistant
Minetta Elgersma Hooisma
Minetta Elgersma Hooisma
Research Technician
Anouk Heuvelmans
Anouk Heuvelmans
Research Technician
Mehrnoush Aghadavoud Jolfaei
Mehrnoush Aghadavoud Jolfaei
Research Technician

Recent Publications

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J
in Frontiers in molecular neuroscience 2020

Angelman Syndrome: From Mouse Models to Therapy.

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.

Ottenhoff MJ, Rietman AB, Mous SE, Plasschaert E, Gawehns D, Brems H, Oostenbrink R, van Minkelen R, Nellist M, Schorry E, Legius E, Moll HA, Elgersma Y
in Genetics in medicine : official journal of the American College of Medical Genetics 2020

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.

Geerts-Haages A, Bossuyt SNV, den Besten I, Bruggenwirth H, van der Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M
in Molecular genetics & genomic medicine 2020

Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model.

Koene LMC, van Grondelle SE, Proietti Onori M, Wallaard I, Kooijman NHRM, van Oort A, Schreiber J, Elgersma Y
in Annals of clinical and translational neurology 2019

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

in Nature neuroscience 2019

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.

Overwater IE, Rietman AB, Mous SE, Bindels-de Heus K, Rizopoulos D, Ten Hoopen LW, van der Vaart T, Jansen FE, Elgersma Y, Moll HA, de Wit MY
in Neurology 2019

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.

Sonzogni M, Hakonen J, Bernabé Kleijn M, Silva-Santos S, Judson MC, Philpot BD, van Woerden GM, Elgersma Y
in Molecular autism 2019

CAMK2-Dependent Signaling in Neurons Is Essential for Survival.

Kool MJ, Proietti Onori M, Borgesius NZ, van de Bree JE, Elgersma-Hooisma M, Nio E, Bezstarosti K, Buitendijk GHS, Aghadavoud Jolfaei M, Demmers JAA, Elgersma Y, van Woerden GM
in The Journal of neuroscience : the official journal of the Society for Neuroscience 2019

The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

Tonazzini I, Van Woerden GM, Mientjes EJ, Elgersma Y, Cecchini M
in Mol Autism 2019

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia

Heimer G, Van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkom A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B
in Hum Mutat 2019

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.

Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Navis C, Rietman AB, Ten Hoopen LW, Brooks AS, Elgersma Y, Moll HA, de Wit MY
in American journal of medical genetics. Part A 2019

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.

Perenthaler E, Yousefi S, Niggl E, Barakat TS
in Frontiers in cellular neuroscience 2019
show more publications

Vacancies

There are currently no vacancies on our lab.