Understanding the (epi)genetic dysregulation in Parkinson's disease through an integrative brain competitive endogenous RNA network

Authors: Piergiorge, Rafael Mina, Vasconcelos, Ana Tereza Ribeiro de, Santos-Rebouças, Cíntia Barros

Source: In Mechanisms of Ageing and Development June 2024 219

Multi-layered transcriptomic analysis reveals a pivotal role of FMR1 and other developmental genes in Alzheimer's disease-associated brain ceRNA network

Authors: Piergiorge, Rafael Mina ^a, da Silva Francisco Junior, Ronaldo ^b, de Vasconcelos, Ana Tereza Ribeiro ^c, Santos-Rebouças, Cíntia Barros ^{a, ∗}

Source: In Computers in Biology and Medicine November 2023 166

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Authors: Cotrin, Juliana Cordovil, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, Spitz, Mariana, Gerber, Alexandra Lehmkuhl, Guimarães, Ana Paula de Campos, Vasconcelos, Ana Tereza Ribeiro, Santos-Rebouças, Cíntia Barros

Source: Neurogenetics; 2/15/2025, Vol. 26 Issue 1, p1-6, 6p

Subject Terms: GENETIC risk score, GAUCHER'S disease, MEDICAL sciences, PARKINSON'S disease, MEDICAL genetics

Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay

Authors: Piergiorge, Rafael Mina, de Vasconcelos, Ana Tereza Ribeiro, Gonçalves Pimentel, Márcia Mattos, Santos-Rebouças, Cíntia Barros

Source: World journal of biological psychiatry. 22(6):435-445

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123688811.0x000001&indx=1&recIds=ETOCvdc_100123688811.0x000001

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Authors: Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

Source: Molecular neurobiology. 57(9):3671-3684

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172089391.0x000001&indx=1&recIds=ETOCvdc_100172089391.0x000001

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability

Authors: Gonçalves, Thainá Fernandez, Piergiorge, Rafael Mina, dos Santos, Jussara Mendonça, Gusmão, Jaqueline, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

Source: Journal of molecular neuroscience. 67(2):295-304

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128506616.0x000001&indx=1&recIds=ETOCvdc_100128506616.0x000001

Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Authors: Cotrin, Juliana Cordovil¹ (AUTHOR), Piergiorge, Rafael Mina¹ (AUTHOR), Gonçalves, Andressa Pereira¹ (AUTHOR), Pereira, João Santos² (AUTHOR), Gerber, Alexandra Lehmkuhl³ (AUTHOR), de Campos Guimarães, Ana Paula³ (AUTHOR), de Vasconcelos, Ana Tereza Ribeiro³ (AUTHOR), Santos-Rebouças, Cíntia Barros¹ (AUTHOR) cbs@uerj.br

Source: Metabolic Brain Disease. Jun2024, Vol. 39 Issue 5, p915-928. 14p.

Subject Terms: *PARKINSON'S disease, *SYNAPTIC vesicles, *GENETIC variation, *RAPID eye movement sleep, *SLEEP disorders

Immune response stability to the SARS-CoV-2 mRNA vaccine booster is influenced by differential splicing of HLA genes.

Authors: Santos-Rebouças, Cíntia Barros, Ferreira, Cristina dos Santos, Nogueira, Jeane de Souza, Brustolini, Otávio José, de Almeida, Luiz Gonzaga Paula, Gerber, Alexandra Lehmkuhl, Guimarães, Ana Paula de Campos, Piergiorge, Rafael Mina, Struchiner, Cláudio José, Porto, Luís Cristóvão, de Vasconcelos, Ana Tereza Ribeiro

Source: Scientific Reports; 4/18/2024, Vol. 14 Issue 1, p1-14, 14p

Subject Terms: COVID-19 vaccines, BOOSTER vaccines, IMMUNE response, GENETIC engineering, VACCINE immunogenicity, RNA splicing, ALLELES, SERUM

Metabolic Adaptations Correlated with Antibody Response after Immunization with Inactivated SARS-CoV‑2 in Brazilian Subjects.

Authors: de Souza Nogueira, Jeane, Santos-Rebouças, Cíntia Barros, Piergiorge, Rafael Mina, Valente, Ana Paula, Gama-Almeida, Marcos C., El-Bacha, Tatiana, Lopes Moreira, Maria Luiza, Baptista Marques, Bruna Silva, de Siqueira, Jessica Rodrigues, de Carvalho, Erika Martins, da Costa Ferreira Jr., Orlando, Porto, Luís Cristóvão, Kelly da Silva Fidalgo, Tatiana, Costa dos Santos Jr., Gilson

Source: Journal of Proteome Research; 6/2/2023, Vol. 22 Issue 6, p1908-1922, 15p

Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.

Authors: Santos-Rebouças, Cíntia Barros¹ (AUTHOR), Piergiorge, Rafael Mina¹ (AUTHOR), dos Santos Ferreira, Cristina² (AUTHOR), Seixas Zeitel, Raquel de³ (AUTHOR), Gerber, Alexandra Lehmkuhl² (AUTHOR), Rodrigues, Marta Cristine Felix⁴ (AUTHOR), Guimarães, Ana Paula de Campos² (AUTHOR), Silva, Rodrigo Moulin³ (AUTHOR), Fonseca, Adriana Rodrigues⁴ (AUTHOR), Souza, Rangel Celso² (AUTHOR), de Souza, Ana Tereza Antunes Monteiro³ (AUTHOR), Rossi, Átila Duque⁵ (AUTHOR), Porto, Luís Cristóvão de Moraes Sobrino⁶ (AUTHOR), Cardoso, Cynthia Chester⁵ (AUTHOR), de Vasconcelos, Ana Tereza Ribeiro² (AUTHOR) atrv@lncc.br

Source: Molecular Medicine. 12/12/2022, Vol. 28 Issue 1, p1-16. 16p.

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Authors: dos Santos, Suely Rodrigues¹ (AUTHOR), Piergiorge, Rafael Mina² (AUTHOR), Rocha, Jady² (AUTHOR), Abdala, Bianca Barbosa² (AUTHOR), Gonçalves, Andressa Pereira² (AUTHOR), Pimentel, Márcia Mattos Gonçalves² (AUTHOR), Santos-Rebouças, Cíntia Barros^2,3 (AUTHOR) cbs@uerj.br

Source: Metabolic Brain Disease. Oct2022, Vol. 37 Issue 7, p2431-2440. 10p.

Subject Terms: *MISSENSE mutation, *GENETIC variation, *PHENOTYPES, *RNA-binding proteins, *HEARING disorders, *PROTEIN structure

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