Review
Cell Biology
Maulin M. Patel, Leonidas Tsiokas
Summary: The primary cilium is an important organelle present in most cell types, serving as a signaling center for various cellular processes. Abnormal cilia length can lead to a range of human diseases, known as ciliopathies. While cilia assembly is well understood, the process of cilia disassembly and its biological roles remain less clear and require further investigation for potential therapeutic targets.
Review
Biochemistry & Molecular Biology
Junjun Liu, Haibo Xie, Mengfan Wu, Yidan Hu, Yunsi Kang
Summary: Cilia are hair-like organelles that play crucial roles in signal transduction, organ development, and tissue homeostasis. Abnormalities in their structure and function can lead to ciliopathies. Zebrafish is an ideal model for cilia research due to its conserved structure and function. This review summarizes the different types of cilia in zebrafish and their roles in organogenesis, and discusses future prospects for ciliary research in this model organism.
Review
Cell Biology
Wen-Ting Yang, Shi-Rong Hong, Kai He, Kun Ling, Kritika Shaiv, JingHua Hu, Yu-Chun Lin
Summary: Cilia, highly conserved hair-like structures protruding from cell surface among diverse species, play crucial roles in cell functions. Axonemal glutamylation, a post-translational modification in ciliary axonemes, regulates the structure and function of cilia. Investigating the physiological roles of axonemal glutamylation helps in understanding its significance in human health.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell Biology
Mariam G. Aslanyan, Cenna Doornbos, Gaurav D. Diwan, Zeinab Anvarian, Tina Beyer, Katrin Junger, Sylvia E. C. van Beersum, Robert B. Russell, Marius Ueffing, Alexander Ludwig, Karsten Boldt, Lotte B. Pedersen, Ronald Roepman
Summary: By studying ubiquitination modifications in cells, we have identified the involvement of ESCRT-dependent clathrin-mediated endocytosis vesicles and caveolae components in ciliary function. These findings contribute to a better understanding of the mechanisms underlying cilia biology in health and disease.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Genetics & Heredity
Julia Wallmeier, Marlene Dallmayer, Heymut Omran
Summary: Hydrocephalus is a common condition in newborns, with causes ranging from intraventricular hemorrhage to genetic changes. Ciliopathies, a group of diseases characterized by dysfunction or absence of cilia, can also lead to hydrocephalus. Nonmotile ciliopathies are often associated with severe prenatal hydrocephalus and other brain malformations, while motile ciliopathies, particularly those related to multiciliogenesis defects, can cause hydrocephalus and chronic lung disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Kwangjin Park, Michel R. Leroux
Summary: The transition zone (TZ) of the cilium acts as a diffusion barrier, ensuring ciliary autonomy and homeostasis by its unique complement and spatial organization of proteins, a protein picket fence, a specialized lipid microdomain, differential membrane curvature and thickness, and a size-selective molecular sieve. Understanding the TZ is important not only for illuminating essential aspects of human cell signaling, physiology, and development, but also for unraveling how TZ dysfunction contributes to ciliopathies affecting multiple organ systems.
Article
Cell Biology
Ching-Fang Chang, Kari M. Brown, Yanfen Yang, Samantha A. Brugmann
Summary: Primary cilia, microtubule-based cellular organelles, play a critical role in cellular function and their dysfunction is associated with various disorders. The C2cd3 protein is essential for ciliogenesis and mutations in this gene are linked to certain ciliopathies. Genetic background was found to influence the phenotypic variation in mice models, suggesting a complex interplay between genetic factors and disease manifestation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Xiying Chen, Zhouyuanjing Shi, Feng Yang, Tianhua Zhou, Shanshan Xie
Summary: Cilia are microtubule-based organelles that play crucial roles in cellular signaling pathways and extracellular fluid movement. Defects in ciliary structures and functions are implicated in hereditary disorders known as ciliopathies. Proteomic studies provide important clues for understanding the physiological and pathological roles of cilia.
Review
Medicine, Research & Experimental
Ina Ofelia Focsa, Magdalena Budisteanu, Mihaela Balgradean
Summary: Ciliopathies are a group of complex diseases involving multiple organs and systems. Research has shown that the pathogenesis of ciliopathies involves multiple genes, and predicting the disease phenotype remains a challenge.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2021)
Article
Endocrinology & Metabolism
Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Celine Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Hogler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valerie Cormier-Daire, Alexandre Benmerah, Outi Makitie
Summary: This study identifies biallelic variants in the KIF24 gene as the cause of skeletal dysplasia, expanding the genetic heterogeneity and phenotypic spectrum of rare bone disorders, and highlighting the wide range of monogenetic skeletal ciliopathies.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Genetics & Heredity
Liliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, Varshini Karthik, Man-Kim Cheung, Jorn Lakowski, Gabrielle Wheway
Summary: Retinitis pigmentosa (RP) is a common hereditary cause of blindness, and understanding its molecular mechanism is important for targeted treatment. This study used various experimental methods and data analysis to confirm that mutations in certain genes associated with RP can lead to defects in microtubules, centrosomes, and cilia in cells, triggering differential splicing of DNA damage response pathways. Additionally, the study identified the TTLL3 gene as a potential therapeutic target, as it plays a crucial role in the cilial tubulin glycylation process.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna
Summary: Ciliopathies are severe inherited human disorders caused by defective cilia formation or function. This study identifies a novel RPGRIP1L variant associated with Meckel-Gruber Syndrome (MKS) and proposes a plausible mechanism of reduced ciliary localization due to the deletion of exon 6 of RPGRIP1L.
FRONTIERS IN GENETICS
(2022)
Review
Ophthalmology
Bharatendu Chandra, Moon Ley Tung, Ying Hsu, Todd Scheetz, Val C. Sheffield
Summary: The primary cilium is a specialized organelle in eukaryotes that plays an important role in cell signaling and transportation. Ciliopathies are a group of disorders caused by ciliary dysfunction or abnormal ciliogenesis, with multiorgan involvement. Understanding the genetics and clinical features of ciliopathies, such as Bardet-Biedl syndrome, is challenging but crucial for therapeutic development. This review discusses the structure and function of primary cilia, their role in retinal photoreceptors, and the progress made in understanding ciliopathies.
PROGRESS IN RETINAL AND EYE RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Renshuai Zhang, Jianming Tang, Tianliang Li, Jun Zhou, Wei Pan
Summary: Primary cilia are mechanosensory organelles that regulate cellular physiological processes. INPP5E is an enzyme that plays a key role in phosphoinositide metabolism and works synergistically with ciliary membrane-related proteins to maintain cilia homeostasis and function.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Review
Pediatrics
M. Castillo, E. Freire, V. I. Romero
Summary: This study aims to highlight the lack of standardized diagnostic and treatment guidelines for primary ciliary dyskinesia (PCD) in Latin America. The study found that certain diagnostic tools and treatment options mentioned in North American and European guidelines are not readily accessible in many Latin American countries.
FRONTIERS IN PEDIATRICS
(2023)
Article
Multidisciplinary Sciences
Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreno, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Perez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Summary: This study investigated the genetic landscape of inherited retinal diseases (IRDs) in Spain, involving 6089 patients from 4403 unrelated families. The most common phenotype identified was retinitis pigmentosa (RP), with several genes such as PRPH2, ABCA4, and RS1 being recurrently mutated across different types of IRD.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Maria Alvarez-Satta, Mauro Lago-Docampo, Brais Bea-Mascato, Carlos Solarat, Sheila Castro-Sanchez, Soren T. Christensen, Diana Valverde
Summary: This study reveals that ALMS1 depletion affects ciliary morphology and TGF-beta/BMP signaling, shedding light on its role in primary cilia function and cellular signaling, potentially linking it to the pathology of Alstrom syndrome.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, General & Internal
Marta Nunez-Fernandez, Cristina Ramos-Hernandez, Francisco Garcia-Rio, Maria Torres-Duran, Andres Nodar-Germinas, Amara Tilve-Gomez, Paula Rodriguez-Fernandez, Diana Valverde-Perez, Alberto Ruano-Ravina, Alberto Fernandez-Villar
Summary: A study found that the most frequent alteration in respiratory function tests three to four months after hospitalization for COVID-19 pneumonia was decreased DLCO. Factors associated with changes in DLCO-DLNO combination included age, gender, dyspnoea severity, perception of health, and physical capacity.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cell Biology
Ignacio Hernandez-Gonzalez, Jair Tenorio-Castano, Nuria Ochoa-Parra, Natalia Gallego, Carmen Perez-Olivares, Mauro Lago-Docampo, Julian Palomino Doza, Diana Valverde, Pablo Lapunzina, Pilar Escribano-Subias
Summary: This study identified genetic defects in patients with CTD-PAH, with disease-associated variants observed in 9 patients, including pathogenic variants in genes such as TBX4, ABCC8, KCNA5, and GDF2/BMP9. These findings suggest that genetic factors may play a role in Pulmonary Vascular Disease (PVD) in CTD patients.
Article
Virology
Pilar Gallego-Garcia, Nair Varela, Nuria Estevez-Gomez, Loretta De Chiara, Iria Fernandez-Silva, Diana Valverde, Nicolae Sapoval, Todd J. Treangen, Benito Regueiro, Jorge Julio Cabrera-Alvargonzalez, Victor del Campo, Sonia Perez, David Posada
Summary: Understanding the transmission of SARS-CoV-2 is crucial for effective prevention measures. This study investigated the effectiveness of genomic sequencing in inferring transmission events. The research found that intrahost genomic variation in SARS-CoV-2 is limited, making it difficult to identify direct transmission events. The slow mutation rate, convergent events, and technical artifacts hinder the reliable reconstruction of transmission based solely on genomic data. Detailed contact tracing is essential for studying SARS-CoV-2 transmission at a high resolution.
Article
Cardiac & Cardiovascular Systems
Mauro Lago-Docampo, Carlos Solarat, Luis Mendez-Martinez, Adolfo Baloira, Diana Valverde
Summary: Pulmonary Arterial Hypertension (PAH) is a rare disease caused by the obliteration of the pulmonary arterioles, leading to right heart failure. Endothelin-1 (EDN1) is a peptide that constricts blood vessels and its levels are associated with disease progression in PAH. In this study, we sequenced the untranslated regions of EDN1 in PAH patients and identified two single nucleotide polymorphisms (SNPs) that can affect gene expression. We found that the transcription factors PPAR gamma, KLF4, and VDR can bind to these SNPs and regulate EDN1 production in different cell types.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Critical Care Medicine
Matina Prapa, Mauro Lago-Docampo, Emilia M. Swietlik, David Montani, Melanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M. F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano-Subias, Henning Gall, Barbara Girerd, Ignacio Hernandez-Gonzalez, Simon Holden, David Hunt, Samara M. A. Jansen, Wilhelmina Kerstjens-Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina, Joanna Pepke-Zaba, Gary J. Polwarth, Gwen Schotte, Jair Tenorio-Castano, A. A. Roger Thompson, John Wharton, Stephen J. Wort, Karyn Megy, Rutendo Mapeta, Carmen M. Treacy, Jennifer M. Martin, Wei Li, Andrew J. Swift, Paul D. Upton, Nicholas W. Morrell, Stefan Graf, Diana Valverde
Summary: This study analyzed TBX4-associated pulmonary arterial hypertension and found that TBX4 variants can cause both loss-of-function and gain-of-function effects. The differential impact of pathogenic mutations located in critical protein domains may explain the pleiotropic effects of TBX4 in lung disease.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2022)
Article
Genetics & Heredity
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreno, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso
Summary: This study aimed to investigate the role of mutational load in the clinical variability of Bardet-Biedl syndrome (BBS). Through clinical annotation and mutational load analysis, it was found that mutations in multiple BBS-associated genes may be associated with a more severe phenotype and specific clinical features. The study also revealed the potential role of oligogenic inheritance in BBS.
NPJ GENOMIC MEDICINE
(2022)
Article
Multidisciplinary Sciences
Isaura Fernandez Perez, Diana Valverde, Concepcion Fiano Valverde, Jenifer Brea Iglesias, Maria Jose Villanueva Silva, Martin Lazaro Quintela, Barbara Melendez
Summary: In the treatment decision-making for low-grade gliomas (LGG), clinical criteria like EORTC and RTOG are still being used despite the introduction of molecular features. However, the consistency between EORTC and RTOG criteria is low, indicating the need to integrate clinical-molecular scores for improved treatment decisions.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Brais Bea-Mascato, Elena Neira-Goyanes, Antia Iglesias-Rodriguez, Diana Valverde
Summary: The research demonstrates that the ALMS1 gene plays a role in controlling the cell cycle and apoptosis processes. Depletion of ALMS1 affects the signal transduction through the TGF-beta pathway and other processes like cell migration and adhesion capacity.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Alejandro Cruz-Utrilla, Natalia Gallego-Zazo, Carmen Perez-Olivares, Ignacio Hernandez-Gonzalez, Pedro Bedate, Amaya Martinez Menaca, Manuel Lopez Meseguer, Pablo Lapunzina, Marta Perez Nunez, Nuria Ochoa Parra, Diana Valverde, Jair Antonio Tenorio-Castano, Pilar Escribano-Subias
Summary: This study analyzed the genetic testing results of 298 patients with pulmonary arterial hypertension and incorporated genetic information into the current risk assessment model. The study found that although genetic information did not significantly improve the overall prognostic evaluation, it could better identify patients at intermediate-low and intermediate-high risk. This is of great significance for optimizing treatment strategies and improving patient prognosis.
REVISTA ESPANOLA DE CARDIOLOGIA
(2023)
Article
Biochemistry & Molecular Biology
Alba Vera-Zambrano, Mauro Lago-Docampo, Natalia Gallego, Juan Felipe Franco-Gonzalez, Daniel Morales-Cano, Alejandro Cruz-Utrilla, Marta Villegas-Esguevillas, Edgar Fernandez-Malave, Pilar Escribano-Subias, Jair Antonio Tenorio-Castano, Francisco Perez-Vizcaino, Diana Valverde, Teresa Gonzalez, Angel Cogolludo
Summary: Reduced expression and/or activity of Kv1.5 channels is a common feature in PAH. This study characterized seven KCNA5 variants found in PAH patients and found that two of them resulted in loss of channel function and reduced expression, affecting cell apoptosis. These findings suggest that KCNA5 variants may be causative or contributing factors for PAH.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2023)