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Items: 14

1.

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome.

Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Gali H, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.

Ann Neurol. 2018 Sep 3. doi: 10.1002/ana.25327. [Epub ahead of print]

PMID:
30178464
2.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG.

Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17.

3.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

4.

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.

Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Schaffer AE, Kim S, Kang HC, Song S, Mathern GW, Gleeson JG.

Nat Med. 2015 Dec;21(12):1445-54. doi: 10.1038/nm.3982. Epub 2015 Nov 2.

5.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG.

Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25.

6.

Non-cell-autonomous mechanism of activity-dependent neurotransmitter switching.

Guemez-Gamboa A, Xu L, Meng D, Spitzer NC.

Neuron. 2014 Jun 4;82(5):1004-16. doi: 10.1016/j.neuron.2014.04.029.

7.

Primary cilia in the developing and mature brain.

Guemez-Gamboa A, Coufal NG, Gleeson JG.

Neuron. 2014 May 7;82(3):511-21. doi: 10.1016/j.neuron.2014.04.024. Review.

8.

Mutations in CSPP1 lead to classical Joubert syndrome.

Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG.

Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19.

9.

Activation of NOX2 by the stimulation of ionotropic and metabotropic glutamate receptors contributes to glutamate neurotoxicity in vivo through the production of reactive oxygen species and calpain activation.

Guemez-Gamboa A, Estrada-Sánchez AM, Montiel T, Páramo B, Massieu L, Morán J.

J Neuropathol Exp Neurol. 2011 Nov;70(11):1020-35. doi: 10.1097/NEN.0b013e3182358e4e.

PMID:
22002428
10.

Reactive oxygen species participate in the p38-mediated apoptosis induced by potassium deprivation and staurosporine in cerebellar granule neurons.

Ramiro-Cortés Y, Guemez-Gamboa A, Morán J.

Int J Biochem Cell Biol. 2011 Sep;43(9):1373-82. doi: 10.1016/j.biocel.2011.06.001. Epub 2011 Jun 12.

PMID:
21683152
11.

Reactive oxygen species are related to ionic fluxes and volume decrease in apoptotic cerebellar granule neurons: role of NOX enzymes.

Hernández-Enríquez B, Guemez-Gamboa A, Morán J.

J Neurochem. 2011 May;117(4):654-64. doi: 10.1111/j.1471-4159.2011.07231.x. Epub 2011 Apr 6.

12.

Apoptosis and autophagy in rat cerebellar granule neuron death: Role of reactive oxygen species.

Maycotte P, Guemez-Gamboa A, Moran J.

J Neurosci Res. 2010 Jan;88(1):73-85. doi: 10.1002/jnr.22168.

PMID:
19598251
13.

NOX2 mediates apoptotic death induced by staurosporine but not by potassium deprivation in cerebellar granule neurons.

Guemez-Gamboa A, Morán J.

J Neurosci Res. 2009 Aug 15;87(11):2531-40. doi: 10.1002/jnr.22079.

PMID:
19360906
14.

Role of NADPH oxidase in the apoptotic death of cultured cerebellar granule neurons.

Coyoy A, Valencia A, Guemez-Gamboa A, Morán J.

Free Radic Biol Med. 2008 Oct 15;45(8):1056-64. doi: 10.1016/j.freeradbiomed.2008.06.027. Epub 2008 Jul 2.

PMID:
18675340

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