Mattijs Punt | Dept. of Neuroscience

1. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A

in Genetics in medicine : official journal of the American College of Medical Genetics 2024

DOI: 10.1016/j.gim.2024.101119

2. A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics

Lucas Wahl, A. Mattijs Punt, Tara Arbab, Ingo Willuhn, Ype Elgersma, Aleksandra Badura

in eNeuro 2022

DOI: 10.1523/ENEURO.0446-21.2022

3. A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.

Pandya NJ, Meier S, Tyanova S, Terrigno M, Wang C, Punt AM, Mientjes EJ, Vautheny A, Distel B, Kremer T, Elgersma Y, Jagasia R

in Molecular psychiatry 2022

DOI: 10.1038/s41380-022-01484-z

4. Molecular and behavioral consequences of Ube3a gene overdosage in mice.

Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IJcken WF, Elgersma Y, Philpot BD

in JCI insight 2022

DOI: 10.1172/jci.insight.158953

5. The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.

Viho EMG, Punt AM, Distel B, Houtman R, Kroon J, Elgersma Y, Meijer OC

in International journal of molecular sciences 2022

DOI: 10.3390/ijms24010303

6. 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

DOI: 10.1093/hmg/ddab050

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

Avagliano Trezza R, Punt AM, Mientjes E, van den Berg M, Zampeta FI, de Graaf IJ, van der Weegen Y, Demmers JAA, Elgersma Y, Distel B

in Scientific reports 2021

DOI: 10.1038/s41598-021-82319-9

8. Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.

Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martí Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R

in Cell reports. Medicine 2021

DOI: 10.1016/j.xcrm.2021.100360

9. Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.

Judson MC, Shyng C, Simon JM, Davis CR, Punt AM, Salmon MT, Miller NW, Ritola KD, Elgersma Y, Amaral DG, Gray SJ, Philpot BD

in JCI insight 2021

DOI: 10.1172/jci.insight.144712

10. 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

DOI: 10.1002/mgg3.1481

Department of Neuroscience
Erasmus MC

NEUROSCIENCE LABS

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Mattijs Punt (A.M.)

Publications

1. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

2. A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics

3. A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.

4. Molecular and behavioral consequences of Ube3a gene overdosage in mice.

5. The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.

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

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

8. Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.

9. Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.

10. 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.

contact

Mattijs Punt (A.M.)

Publications Show/Hide

1. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

2. A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics

3. A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.

4. Molecular and behavioral consequences of Ube3a gene overdosage in mice.

5. The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.

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

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

8. Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.

9. Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.

10. 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.

Publications