Carlos González

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Emma K. Wiener, Rocío Rius, Carlos González, Arastoo Vossough et autres

Abstract Background Monogenic autoinflammatory disorders arise from genetic defects that pathologically activate innate immunity. IRAK4, a serine/threonine kinase in the Myddosome pathway, mediates IL-1 and Toll-like receptor signaling, driving proinflammatory cytokine and type I interferon responses. While biallelic loss-of-function IRAK4 variants cause …

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P-622. Population-Based Longitudinal Maternal and Birth Cohort of Prevalent Respiratory Tract Infections in Children from 0 to 5 years of age

Eduardo López-Medina, Rodrigo De Antonio, Xavier Sáez‐Llorens, Pío Lopez et autres

Abstract Background In LMIC, respiratory tract infections (RTI) are a leading cause of child morbidity/mortality, yet their epidemiology remains poorly defined. We established a birth cohort to investigate RTI and factors associated with progression to lower RTI (LRTI) at CEIP (Cali, Colombia) …

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Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease

Carlos González, Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva et autres

Background and Objectives: result in spongiform degeneration of the cerebral white matter, leading to progressive and irreversible motor and cognitive decline. Despite comprehensive genetic testing, many individuals with clinical and biochemical diagnoses of CD remain without a definitive molecular diagnosis. This gap …

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BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos González, Chad D. Williamson, Guy Helman et autres

BLOC1S1 encodes a subunit shared by the BLOC-1 and BORC hetero-octameric complexes that regulate various endolysosomal processes. Here, we report the identification of seven distinct variants in BLOC1S1 in eleven individuals from seven independent families presenting with early psychomotor delay, hypotonia, spasticity, …

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A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

Carlos González, Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva et autres

Abstract Canavan disease (CD) is a neurodegenerative disorder caused by biallelic disease-causing variants in the ASPA gene. Here, we utilized long-read sequencing (LRS) to investigate eight individuals clinically diagnosed with Canavan disease but without definitive genetic diagnoses. Our analyses identified a recurring …

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Membrane tension‐dependent conformational change of Isoleucine 106 of loop B diminishes water permeability in FaPIP2 ;1

Agustín Caviglia, Nicolás Espinoza, Juan J. Alvear-Arias, Luciano Galizia et autres

Abstract Aquaporins (AQPs) are membrane proteins specialized in facilitating water transport across membranes. Mechanical stress is one of the various stimuli that regulate AQPs. Briefly, there are several studies that report a decrease in permeability upon an increase in membrane tension. However, …

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Trapping Charge Mechanism in Hv1 Channels (CiHv1)

Miguel Fernández, Juan J. Alvear-Arias, Emerson M. Carmona, Christian A. Carrillo-Soto et autres

The majority of voltage-gated ion channels contain a defined voltage-sensing domain and a pore domain composed of highly conserved amino acid residues that confer electrical excitability via electromechanical coupling. In this sense, the voltage-gated proton channel (Hv1) is a unique protein in …

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Size Matters: Free-Energy Calculations of Amino Acid Adsorption over Pristine Graphene

Mateo Barria‐Urenda, A. R. Ruiz-Fernández, Carlos González, Chris Oostenbrink et autres

There is still growing interest in graphene interactions with proteins, both for its possible biological applications and due to concerns over detrimental effects at the cellular level. As with any process involving proteins, an understanding of amino acid composition is desirable. In …

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N-terminal region is responsible for mHv1 channel activity in MDSCs

Antonio Peña-Pichicoi, Miguel Fernández, Nieves Navarro‐Quezada, Juan J. Alvear-Arias et autres

Voltage-gated proton channels (Hv1) are important regulators of the immunosuppressive function of myeloid-derived suppressor cells (MDSCs) in mice and have been proposed as a potential therapeutic target to alleviate dysregulated immunosuppression in tumors. However, till date, there is a lack of evidence …

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Mechanosensitive aquaporins

Marcelo Ozu, Luciano Galizia, Juan J. Alvear-Arias, Miguel Fernández et autres

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Role of voltage-gated proton channel (Hv1) in cancer biology

Juan J. Alvear-Arias, Antonio Peña-Pichicoi, Christian A. Carrillo-Soto, Miguel Fernández et autres

The acid-base characteristics of tumor cells and the other elements that compose the tumor microenvironment have been topics of scientific interest in oncological research. There is much evidence confirming that pH conditions are maintained by changes in the patterns of expression of …

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Function modulation of MDSC mHv1 channel by N terminal length

Antonio Peña-Pichicoi, Juan J. Alvear, Christian A. Carrillo-Soto, Miguel Fernández et autres

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