Publications

Guemez-Gamboa Lab members in Italics

  • Rylaarsdam L, Rakotomamonjy J, Pope E, and Guemez-Gamboa A. iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.  (2024) Nat comms. 15(1):827. PMID: 38280846; PMCID: PMC10821916

 

  • Schroder AL, Fairbanks-Santana M, Rakotomamonjy J, Guemez-Gamboa A. (2024) Quantifying differentiation of progenitors populations using cerebral organoid models for Neurodevelopmental Disorders. STAR Protocols. 5(1):102904. PMID: 38427568; PMCID: PMC10918321

 

  • Rakotomamonjy J, Rylaarsdam L, Fares-Taie L, McDermott S, Davies D, Yang G, Fagbemi F, Epstein M, Fairbanks-Santana M, Rozet JM, Guemez-Gamboa A. (2023) PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model. Cell Reports. 42(8):112845. PMID: 37480564. PMCID: PMC10521973

 

  • Rylaarsdam L, Reddy T, Guemez-Gamboa A. (2022) In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development. Trends Genet. 23:S0168-9525(21)00303-6. PMID: 34836651

 

  • Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN), McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. (2021) Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Annals of Neurology. 90(2):274-284. PMID: 34185323. PMCID: PMC8324566

 

  • Tovar-Y-Romo LB, Guemez-Gamboa A, Duarte JMN (2021). Editorial: Mechanisms of Neuronal Recovery in the Central Nervous System. Front Cell Dev Biol. 20(9):733066. PMID: 34490279. PMCID: PMC8417729

 

  • Rakotomamonjy J, Rylaarsdam L, Guemez-Gamboa A. (2020) PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye. Neuron. 107(1):3-5.

 

  • Rakotomamonjy J, Sabetfakhri NP, McDermott SL, Guemez-Gamboa A. (2020) Characterization of seizure susceptibility in Pcdh19 mice. Epilepsia, 61(10), 2313-2320. PMID: 32944953. PMCID: PMC7722218

 

  • Rakotomamonjy J, Guemez-Gamboa A. (2019) Purkinje Cell Survival in Organotypic Cerebellar Slice Cultures. J Vis Exp.18. 158. PMID:31904025.

 

  • Rylaarsdam L, Guemez-Gamboa A. (2019) Genetic Causes and Modifiers of Autism Spectrum Disorder. Front Cell Neurosci. 13. 385. PMID:31481879. PMCID:PMC6710438

 

  • Li H, Saucedo-Cuevas L, Yuan L, Ross D, Johansen A, Sands D, Stanley V, Guemez-Gamboa A, Gregor A, Evans T, Chen S, Tan L, Molina H, Sheets N, Shiryaev SA, Terskikh AV, Gladfelter AS, Shresta S, Xu Z, Gleeson JG. (2019) Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitor. Neuron.101(6):1089-1098. PMID:30713029. PMCID:PMC6690588

 

  • Guemez-Gamboa A, Caglayan OA, Stanley V, Gregor A, Zaki MS, Saleem, SN, Musaev D, McEvory-Venner J, Belandres D, Akizu N, Silhavy JL, Scroth J, Rosti OR, Copeland B, Lewis SM, Fang R, Gabriel S, Gunel M, Gleeson JG. (2018) Biallelic mutations in PCDH12 lead to DMJD. Annals of Neurology. 84(5):638-647. PMID:30178464. PMCID: PMC6510237

 

  • Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Guemez-Gamboa A, Gregor A, van Dijk T, Roosing S, Musaev D, Rosti R, Wirth S, Stanley V, Baas F., Barr FA, Gleeson JG. (2017) Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia. Am J Hum Genet. 101(3):441-450. PMID:28823706. PMCID: PMC5590949

 

  • Lardelli R, Schaffer A, Eggens V, Zaki M, Grainger S, Sathe S, VanNostrand E, Schlachetzki Z, Rosti B, Aquizu N, Scott E, Heckman L, Rosti R, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, et. al., (2017) Biallelic mutations in the 3′ exonuclease TOE1 cause Pontocerebellar Hypoplasia Type 7 and uncover a role in snRNA processing. Nature Genetics. 49(3):457-464. PMID:28092684. PMCID: PMC5325768 

 

  • Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Kim S, Kang HC, Song S, Mathern G, Gleeson JG. (2015) An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development. Nature Medicine. 21(12):1445-54. PMID:26523971. PMCID: PMC4955611

 

  • 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, Cazenave-Gassiot A, Quek D, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. (2015) Inactivating Mutations in MFSD2A, Required for Omega-3 Fatty Acid Transport in Brain, Result in a Lethal Microcephaly Syndrome. Nature Genetics. 47(7):809-13. PMID:26005868. PMCID: PMC4547531 * equal contribution

 

  • Guemez-Gamboa A*, Xu L*, Meng Da, Spitzer NC. (2014) Non-cell-autonomous mechanism of activity-dependent neurotransmitter respecification in early development. Neuron. 82(5): 1004-16. PMID:24908484. PMCID: PMC4072120 * equal contribution

 

  • Guemez-Gamboa A, Coufal N, Gleeson JG. (2014) Emerging roles for the cilia in the central nervous system. Neuron. 82(3): 511-21. PMID:24811376. PMCID: PMC4104280

 

  • 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, et. al., (2013) Mutations in Centrosome and Spindle Pole Associated Protein 1 Lead to the Classical Form of Joubert syndrome. Am J Hum Genet. 94(1):80-86. PMID:24360807. PMCID: PMC388290

 

  • Guemez-Gamboa A*, Estrada-Sánchez AM*, Montiel T, Páramo B, Massieu L, Moran J. (2011) 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. J Neuropathol Exp Neurol. 70(11):1020-35. PMID:22002428. * equal contribution

 

  • Ramiro-Cortes Y, Guemez-Gamboa A, Moran J. (2011) p38 is involved in the activation of NADPH-oxidase induced by staurosporine but not by potassium deprivation during the apoptosis of cerebellar granule neurons. Int J Biochem Cell Biol. 43(9):1373-82. PMID:21683152.

 

  • Hernández-Enríquez B*, Guemez-Gamboa A*, Moran J. (2011) Reactive oxygen species are related to ionic fluxes and volume decrease in apoptotic cerebellar granule neurons: Role of NOX enzymes. J Neurochem. 117(4):654-64. PMID:21371036. * equal contribution

 

  • Maycotte P, Guemez-Gamboa A, Moran J. (2010) Apoptosis and Autophagy in Cerebellar Granule Neuron Death: Role of Reactive Oxygen Species. J Neurosci Res. 88(1):73-85. PMID:19598251.

 

  • Guemez-Gamboa A, Moran J. (2009) NOX2 mediates apoptotic death induced by staurosporine but not by potassium deprivation in cerebellar granule neurons. J Neurosci Res. 87(11):2531-40. PMID:19360906.

 

  • Coyoy A, Valencia A, Guemez-Gamboa A, Moran J. (2008) Role of NADPH oxidase in the apoptotic death of cultured cerebellar granule neurons Free Radic Biol Med. 45(8):1056-64. PMID:18675340.