Ype  Elgersma

contact

  • y.elgersma@erasmusmc.nl
  • +31 (0)10 7043337
  • +31 010 7044734
  • Room: Ee1438a
  • Dr. Molewaterplein 40, NL-3015 GE Rotterdam

Prof.Dr. Ype Elgersma (Y)

Publications

1. 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

2. 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

3. 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

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

in Developmental medicine and child neurology 2021

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

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

7. 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

8. 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

9. Angelman Syndrome: From Mouse Models to Therapy.

10. 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
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