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
Annelot van Esbroeck
Annelot van Esbroeck
Postdoctoral Fellow
Linda Koene
Linda Koene
Phd Student
Claudia Milazzo
Claudia Milazzo
Phd Student
Jesminne Castricum
Jesminne Castricum
Phd Student
Eva Niggl
Eva Niggl
Phd Student
Anouk Heuvelmans
Anouk Heuvelmans
Phd Student
Isabella Zampeta
Isabella Zampeta
Phd Student
Myrthe Ottenhoff
Myrthe Ottenhoff
Phd Student
Mattijs Punt
Mattijs Punt
Phd Student
Mehrnoush Aghadavoud Jolfaei
Mehrnoush Aghadavoud Jolfaei
Research Technician
Ilse Wallaard
Ilse Wallaard
Research Technician
Minetta Elgersma Hooisma
Minetta Elgersma Hooisma
Research Technician

Recent Publications

Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair-deficient mice.

Birkisdóttir MB, Jaarsma D, Brandt RMC, Barnhoorn S, van Vliet N, Imholz S, van Oostrom CT, Nagarajah B, Portilla Fernández E, Roks AJM, Elgersma Y, van Steeg H, Ferreira JA, Pennings JLA, Hoeijmakers JHJ, Vermeij WP, Dollé MET
in Aging cell 2021

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Bossuyt SNV, Punt AM, de Graaf IJ, van den Burg J, Williams MG, Heussler H, Elgersma Y, Distel B
in Human molecular genetics 2021

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

van Woerden GM, Bos M, de Konink C, Distel B, Trezza RA, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, Mc Cormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Micheil Innes A, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T
in Human mutation 2021

UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.

in Developmental medicine and child neurology 2021

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.

RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.

Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1.

Castricum J, Tulen JHM, Taal W, Rietman AB, Elgersma Y
in Journal of attention disorders 2021

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.

Clinical aspects of a large group of adults with Angelman syndrome.

den Besten I, de Jong RF, Geerts-Haages A, Bruggenwirth HT, Koopmans M, Brooks A, Elgersma Y, Festen DAM, Valstar MJ
in American journal of medical genetics. Part A 2020

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
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Vacancies

There are currently no vacancies on our lab.