Alicia Guemez-Gamboa

发表

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

P. Maycotte, Alicia Guemez-Gamboa, J. Morán, 2010, Journal of neuroscience research.

A gain-of-function recurrent missense variant leads to a GABAergic/glutamatergic imbalance in a forebrain organoid model of PACS1 syndrome

Alicia Guemez-Gamboa, Lauren E Rylaarsdam, Lauren E. Rylaarsdam, 2022 .

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

F. Baas, J. Gleeson, T. Ben-Omran, 2017, American journal of human genetics.

Characterization of seizure susceptibility in Pcdh19 mice

J. Rakotomamonjy, Alicia Guemez-Gamboa, Niki P. Sabetfakhri, 2020, Epilepsia.

Genetic Causes and Modifiers of Autism Spectrum Disorder

Alicia Guemez-Gamboa, Lauren E Rylaarsdam, Lauren E. Rylaarsdam, 2019, Front. Cell. Neurosci..

An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development

G. Mathern, Hoon-Chul Kang, J. Gleeson, 2015, Nature Medicine.

Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function

L. Fares-Taie, J. Rakotomamonjy, Alicia Guemez-Gamboa, 2023, bioRxiv.

Primary Cilia in the Developing and Mature Brain

Joseph G. Gleeson, Nicole G. Coufal, N. Coufal, 2014, Neuron.

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

Alicia Guemez-Gamboa, J. Morán, 2009, Journal of neuroscience research.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity

J. Rakotomamonjy, Alicia Guemez-Gamboa, Lauren E Rylaarsdam, 2023, bioRxiv.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2021, bioRxiv.

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

S. Gabriel, M. Gunel, A. Cazenave-Gassiot, 2015, Nature Genetics.

Mutations in CSPP1 lead to classical Joubert syndrome.

S. Gabriel, M. Gunel, M. Kabra, 2014, American journal of human genetics.

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

Alicia Guemez-Gamboa, J. Morán, Y. Ramiro-Cortes, 2011, The international journal of biochemistry & cell biology.

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

S. Gabriel, H. Per, N. Shomron, 2018, Annals of neurology.

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

Alicia Guemez-Gamboa, J. Morán, B. Hernández-Enríquez, 2011, Journal of neurochemistry.

Non-Cell-Autonomous Mechanism of Activity-Dependent Neurotransmitter Switching

N. Spitzer, Da Meng, Lin Xu, 2014, Neuron.

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Hongda Li, J. Gleeson, Zhiheng Xu, 2019, Neuron.

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

A. M. Estrada-Sánchez, L. Massieu, Alicia Guemez-Gamboa, 2011, Journal of neuropathology and experimental neurology.

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

Alicia Guemez-Gamboa, J. Morán, A. Valencia, 2008, Free radical biology & medicine.

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

J. Rozet, L. Fares-Taie, J. Rakotomamonjy, 2023, Cell reports.

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity

J. Rakotomamonjy, Alicia Guemez-Gamboa, E. Pope, 2023, bioRxiv.