Review
Agriculture, Dairy & Animal Science
Vlad Cocostirc, Anamaria Ioana Pastiu, Dana Liana Pusta
Summary: This review discusses various inherited neurological conditions in dogs, which can be present from birth or develop later in life. Researchers use wide-ranging genetic investigations and focused investigations on specific genes to identify the genetic causes of these diseases. Most of the reviewed neurological disorders follow an autosomal recessive inheritance pattern, and some dog breeds are more susceptible to these conditions. The use of DNA tests is crucial in managing and ultimately eliminating these inherited diseases in dogs.
Review
Endocrinology & Metabolism
Changrui Xiao, Francis Rossignol, Frederic M. Vaz, Carlos R. Ferreira
Summary: Over 80 human diseases have been linked to defects in complex lipid metabolism, with clinical manifestations often explained by disruptions in the metabolic pathways involved.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Chemistry, Multidisciplinary
Lu Ouyang, Yanping Xia, Jianhua Liao, Rui Miao, Xiao Yang, Renshi Luo
Summary: The iridium-catalyzed transfer hydrogenation of N-heteroarenes enables the synthesis of substituted 1,2,3,4-tetrahydroquinoline derivatives in excellent yields, with broad functional group compatibility and the ability to achieve high enantioselectivity in chiral products.
Article
Cell Biology
Nataliya V. Soshnikova, Asya M. Azieva, Nataliya S. Klimenko, Alvina I. Khamidullina, Alexey V. Feoktistov, Andrey A. Sheynov, Alexander V. Brechalov, Victor V. Tatarskiy, Sofia G. Georgieva
Summary: dcPBAF, a variant of the PBAF complex, is present in differentiated neuronal cells and is responsible for the transcription of specific neuron-specific and housekeeping genes in adult neurons.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Urology & Nephrology
Loes Oomen, Erik Leijte, Darren E. Shilhan, Michelle Battye, Wout F. J. Feitz
Summary: This study examined the patient population with rare urorectogenital diseases or complex conditions within the ERN eUROGEN network from 2013 to 2019. The results showed an increase in clinical activity, but there were differences in patient numbers among healthcare providers. Improved definitions of diagnostic codes and a better understanding of the data-gathering process are needed to obtain valid patient numbers.
Article
Genetics & Heredity
Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Samantha A. Schrier Vergano, Gijs W. E. Santen, Cigall Kadoch
Summary: DNA sequencing studies of neurodevelopmental disorders (NDDs) have revealed that genes encoding mammalian SWI/SNF complexes have the highest number of genetic variants. These variants disrupt specific structural regions and contribute to the severity of NDDs. This research provides valuable insights for understanding the chromatin landscape and clinical genetics of NDDs.
Article
Cardiac & Cardiovascular Systems
Qian Ma, Qiuhua Yang, Jiean Xu, Xiaoyu Zhang, David Kim, Zhiping Liu, Qingen Da, Xiaoxiao Mao, Yaqi Zhou, Yongfeng Cai, Vidhi Pareek, Ha Won Kim, Guangyu Wu, Zheng Dong, Wen-Liang Song, Lin Gan, Chunxiang Zhang, Mei Hong, Stephen J. Benkovic, Neal L. Weintraub, David Fulton, John M. Asara, Issam Ben-Sahra, Yuqing Huo
Summary: This study reveals the important role of de novo purine synthesis in VSMC proliferation in arterial disease and suggests that targeting ATIC could be a promising therapeutic approach.
Review
Nutrition & Dietetics
Mohammad M. H. Abdullah, Itzel Vazquez-Vidal, David J. Baer, James D. House, Peter J. H. Jones, Charles Desmarchelier
Summary: Recent studies have demonstrated significant interactions between specific SNPs and dietary interventions in modulating circulating cholesterol concentrations, which could lead to personalized dietary recommendations for lowering the risk of cardiovascular diseases.
Review
Neurosciences
Xiaohan Yu, Haoyu Liu, Ning Chang, Weijia Fu, Zhiwen Guo, Yue Wang
Summary: Circular RNAs (circRNAs), previously considered as byproducts without biological functions, have been found to play important roles in cognitive function and cognitive-related diseases such as autism, depression, and Alzheimer's diseases. Recent advances in high-throughput sequencing and bioinformatics have led to the identification of thousands of circRNAs and their differential biological functions, particularly in the brain and synapses. This review summarizes the progress in understanding the role of circRNAs in cognitive function and their involvement in cognitive-related diseases.
FRONTIERS IN NEUROSCIENCE
(2023)
Review
Biochemistry & Molecular Biology
Marcelo J. Nieto, Hannah K. Lupton
Summary: The translation highlights the growing threat of antibiotic-resistant infectious diseases and the urgent need for new antibiotics and ways to combat antibiotic resistance. It also discusses the significance of indole and indoline scaffold as useful nuclei for novel antibacterial compounds, focusing on their potential activity against antibiotic-resistant bacteria like MRSA.
CURRENT MEDICINAL CHEMISTRY
(2021)
Article
Neurosciences
Betsaida Ojeda-Perez, Jose A. Campos-Sandoval, Maria Garcia-Bonilla, Casimiro Cardenas-Garcia, Patricia Paez-Gonzalez, Antonio J. Jimenez
Summary: Our study indicates possible biomarkers of hydrocephalus in the cerebral grey and white matter. In the white matter, OPCs may be reacting to acquire a neuroprotective role or as a delay in oligodendrocyte maturation.
FLUIDS AND BARRIERS OF THE CNS
(2021)
Article
Plant Sciences
Ending Xu, Mengyao Wu, Yuanyuan Liu, Yingping Tai, Wenjuan Zha, Changyi Gong, Yu Zou, Peijiang Zhang, Wei Zhang, Xi Chen
Summary: OsPML3 is a protein responsible for manganese ion transport in rice, and it is highly expressed in rapidly developing tissues. It maintains manganese homeostasis, cell wall polysaccharide deposition, and late-stage Golgi N-glycosylation. OsPML3 plays an important role in maintaining manganese homeostasis, regulating cell wall polysaccharide deposition, and late-stage Golgi N-glycosylation in rapidly developing tissues.
JOURNAL OF EXPERIMENTAL BOTANY
(2023)
Article
Ophthalmology
Animesh Sahu, Savleen Kaur, Jaspreet Sukhija, Priyanka Srivastava, Anupriya Kaur
Summary: This study presents the experience of a developing ocular genetic service, conducted at a tertiary care hospital in North-West India from Jan 2020 to Dec 2021. The study included children with congenital or late-onset ocular disorders and individuals of any age referred for genetic counseling. Genetic testing was outsourced and accepted by 55.5% of families, with the opportunity for prenatal diagnosis being the most useful application.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2023)
Review
Biochemical Research Methods
Stephanie L. Schnorr, David Berry
Summary: The review discusses the ecological basis of bacterial lipid metabolism in marine and terrestrial ecosystems, exploring the stressors in the environment that caused early organisms to modify their lipid membrane structures. The study of bacterial lipid synthesis provides insights into how biotechnology can stimulate the synthesis of rare lipids by imitating the evolutionary process. This research is significant for reducing reliance on marine resources and finding solutions for nutrient production in sustainable agriculture and aquaculture.
CURRENT OPINION IN BIOTECHNOLOGY
(2022)
Article
Plant Sciences
Ming Zhou, Lei Deng, Shaogui Guo, Guoliang Yuan, Chuanyou Li, Changbao Li
Summary: This study reveals the genetic control mechanism of the orange-fruited phenotype in a tomato elite inbred line. It is found that this phenotype is controlled by a single recessive gene, oft3, which leads to reduced carotenoid levels and an increased beta-carotene-to-lycopene ratio in fruit. The candidate gene SlIDI1, with a 116 bp deletion mutation, is identified through gene mapping and genome sequence analysis. Functional complementation and CRISPR-Cas9 knockout experiments confirm the role of SlIDI1 in controlling the oft3 locus. Further analysis shows that SlIDI1 is highly expressed in flowers and fruit, and its expression increases with fruit ripening or flower maturation.
HORTICULTURE RESEARCH
(2022)
Article
Clinical Neurology
Xavier Ayrignac, Clarisse Carra-Dalliere, Pekes Codjia, Kevin Mouzat, Giovanni Castelnovo, Emmanuel Ellie, Frederique Etcharry-Bouyx, Serge Belliard, Cecilia Marelli, Florence Portet, Isabelle Le Ber, Francoise Durand-Dubief, Guillaume Mathey, Bruno Stankoff, Imen Dorboz, Severine Drunat, Odile Boespflug-Tanguy, Nicolas Menjot de Champfleur, Serge Lumbroso, Fanny Mochel, Pierre Labauge
Summary: The diagnostic criteria for ALSP have limited sensitivity and modest specificity overall, suggesting the need for a comprehensive approach including magnetic resonance imaging pattern-based analysis and genetic testing like white matter gene panel or whole exome sequencing in patients suspected of genetic leukoencephalopathy.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Vincent Huin, Giulia Coarelli, Clement Guemy, Susana Boluda, Rabab Debs, Fanny Mochel, Tanya Stojkovic, David Grabli, Thierry Maisonobe, Bertrand Gaymard, Timothee Lenglet, Celine Tard, Jean Baptiste Davion, Bernard Sablonniere, Marie Lorraine Monin, Claire Ewenczyk, Karine Viala, Perrine Charles, Isabelle Le Ber, Mary M. Reilly, Henry Houlden, Andrea Cortese, Danielle Seilhean, Alexis Brice, Alexandra Durr
Summary: CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. In this study, we clinically and genetically characterized 50 patients and found that most of them carried a biallelic expansion in RFC1. In addition to the core CANVAS phenotype, we observed several atypical features such as chronic cough, oculomotor signs, motor neuron involvement, dysautonomia, and parkinsonism. We also propose new guidelines for the screening of RFC1 expansion.
Article
Genetics & Heredity
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Gronborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schols, Nicole Wolf
Summary: A group of experts reached consensus on a core set of data elements for a European Metachromatic Leukodystrophy (MLD) registry. The registry will facilitate research, treatment comparisons, and regulatory requirements related to MLD.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Clinical Neurology
Shady Rahayel, Christina Tremblay, Andrew Vo, Ying Qiu Zheng, Stephane Lehericy, Isabelle Arnulf, Marie Vidailhet, Jean Christophe Corvol, Jean Francois Gagnon, Ronald B. Postuma, Jacques Montplaisir, Simon Lewis, Elie Matar, Kaylena Ehgoetz Martens, Per Borghammer, Karoline Knudsen, Allan Hansen, Oury Monchi, Bratislav Misic, Alain Dagher
Summary: The brain atrophy in patients with isolated REM sleep behavior disorder (iRBD) can be explained by the dynamics of alpha-synuclein, and it can be recreated using an agent-based modeling approach. This finding supports the concepts of prion-like spread and regional susceptibility in prodromal synucleinopathies.
Article
Endocrinology & Metabolism
Ulrike Muetze, Florian Gleich, Sven F. Garbade, Celine Plisson, Luis Aldamiz-Echevarria, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petkovic Ramadza, Matthias R. Baumgartner, Aline Cano, Maria Concepcion Garcia Jimenez, Carlo Dionisi-Vici, Pavel Jesina, Henk J. Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A. M. Morris, Helen Mundy, Isabelle Redonnet-Vernhet, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kozich, Stefan Koelker
Summary: This study evaluates the postauthorization safety study (PASS) for betaine anhydrous, conducted as a public-private partnership (PPP) between a network and registry for specific diseases and the marketing authorization holder. The study found that although some individuals exceeded the recommended dose, no new or potential risks were identified. The study also resulted in revised recommendations for betaine anhydrous dosage.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Endocrinology & Metabolism
Mathilde Yverneau, Stephanie Leroux, Apolline Imbard, Florian Gleich, Alina Arion, Caroline Moreau, Marie-Cecile Nassogne, Marie Szymanowski, Marine Tardieu, Guy Touati, Maria Bueno, Kimberly A. Chapman, Yin-Hsiu Chien, Martina Huemer, Pavel Jesina, Mirian C. H. Janssen, Stefan Koelker, Viktor Kozich, Christian Lavigne, Allan Meldgaard Lund, Fanny Mochel, Andrew Morris, Monica Ruiz Pons, Gloria Liliana Porras-Hurtado, Jean-Francois Benoist, Lena Damaj, Manuel Schiff
Summary: This study describes the clinical and laboratory parameters of early-onset MTHFR deficiency and identifies predictive factors for severe neurodevelopmental outcomes. The findings suggest that early diagnosis and appropriate treatment have benefits in improving outcomes.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Letter
Multidisciplinary Sciences
Denilson da S. Bezerra, Adriano de Lima Santos, Janaina Santos Bezerra, Silvana Amaral, Milton Kampel, Liana O. Anderson, Flavia Rebelo Mochel, Jorge Luiz Silva Nunes, Naila Arraes de Araujo, Larissa Nascimento Barreto, Maria do S. S. Pinheiro, Marcio Jose Celeri, Fabricio B. Silva, Alexsandro Mendonca Viegas, Stella Manes, Taissa C. S. Rodrigues, Josue C. Viegas, Ulisses D. V. Souza, Andre L. S. Santos, Celso H. L. Silva-Junior
Letter
Gastroenterology & Hepatology
Johannes Haberle, James Nurse, Fanny Mochel
FRONTLINE GASTROENTEROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Antonius Wiehler, Francesca Branzoli, Isaac Adanyeguh, Fanny Mochel, Mathias Pessiglione
Summary: Behavioral activities that require control over automatic routines typically feel effortful and result in cognitive fatigue. This study suggests that the inflated cost of cognitive control, manifested as cognitive fatigue, may be related to the accumulation of potentially toxic substances. Using magnetic resonance spectroscopy, the researchers found that high-demand cognitive work led to higher glutamate concentration in the lateral prefrontal cortex, making cognitive control harder to mobilize after a strenuous workday.
Article
Clinical Neurology
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurelie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Moller, Elena Gardella, Sarah Weckhuysen
Summary: This study investigates the natural history of STXBP1-DEE in adults and reveals that seizures, movement disorders, and functional dependence are still present in adult patients. Understanding the natural history of STXBP1-DEE is crucial for prognosis and future therapeutic trials.
Article
Genetics & Heredity
Majida Charif, Arnaud Chevrollier, Naig Gueguen, Selma Kane, Celine Bris, David Goudenege, Valerie Desquiret-Dumas, Isabelle Meunier, Fanny Mochel, Luc Jeanjean, Fanny Varenne, Vincent Procaccio, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers
Summary: This study identifies heterozygous PMPCA variants as having a causative role in late-onset primary DOA. Functional assays suggest that these variants may affect the fusion-fission balance in mitochondria, leading to the degeneration of retinal ganglion cells.
Article
Cardiac & Cardiovascular Systems
Konstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, Anca Florian, Mehjabin Rahman, Anthony Behin, Abdallah Fayssoil, Marion Masingue, Tanya Stojkovic, Henri Marc Becane, Nawal Berber, Fanny Mochel, Denis Duboc, Bertrand Fontaine, Bjorg Krett, Caroline Stalens, Julie Lejeune, Robert D. S. Pitceathly, Luis Lopes, Malika Saadi, Thomas Gossios, Vincent Procaccio, Marco Spinazzi, Celine Tard, Pascal De Groote, Claire-Marie Dhaenens, Claire Douillard, Andoni Echaniz-Laguna, Ros Quinlivan, Michael G. Hanna, Ali Yilmaz, John Vissing, Pascal Laforet, Perry Elliott, Karim Wahbi
Summary: This study aimed to develop prediction models for heart failure and arrhythmic MACE in patients with mitochondrial diseases. The results showed that specific genetic variants and cardiac assessments could serve as predictors. These models demonstrated high predictive accuracy.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Correction
Clinical Neurology
Fatemah A. Sakr, Michel J. Grothe, Enrica Cavedo, Irina Jelistratova, Marie-Odile Habert, Martin Dyrba, Gabriel Gonzalez-Escamilla, Hugo Bertin, Maxime Locatelli, Stephane Lehericy, Stefan Teipel, Bruno Dubois, Harald Hampel
ALZHEIMERS RESEARCH & THERAPY
(2022)
Review
Gastroenterology & Hepatology
Dominique Thabut, Charlotte Bouzbib, Lucy Meunier, Manon Haas, Nicolas Weiss, Alexandre Louvet, Francois Imbert-Bismut, Fanny Mochel, Yann Nadjar, Antoine Santiago, Thierry Thevenot, Veronique Duhalde, Frederic Oberti, Claire Francoz, Audrey Coilly, Marie-Noelle Hilleret, Pascal Lebray, Amelie Liou-Schischmanoff, Louise Barbier, Christophe Duvoux, Georges-Philippe Pageaux, Michael Bismuth, Damien Galanaud, Thomas De Broucker, Jean-Francois Cadranel, Vincent Leroy, Vincent Di Martino, Dominique Larrey, Christophe Camus, Olivier Scatton, Victor De Ledinghen, Ariane Mallat, Marika Rudler, Christophe Bureau
Summary: Hepatic encephalopathy (HE) is a frequent and severe complication of liver disease that often goes undiagnosed due to a lack of understanding and consensus on diagnosis. Non-specific symptoms and comorbidities in cirrhotic patients make differential diagnosis challenging. Guidelines are provided to assist clinicians in diagnosing and treating HE. Liver transplantation may be indicated for HE, but its reversibility post-transplantation and the consequences in patients with other neurological disorders remain controversial.
LIVER INTERNATIONAL
(2023)
Article
Clinical Neurology
Wolfgang Koehler, Marc Engelen, Florian Eichler, Robin Lachmann, Ali Fatemi, Jacinda Sampson, Ettore Salsano, Josep Gamez, Maria Judit Molnar, Silvia Pascual, Maria Rovira, Anna Vila, Guillem Pina, Itziar Martin-Ugarte, Adriana Mantilla, Pilar Pizcueta, Laura Rodriguez-Pascau, Estefania Traver, Anna Vilalta, Maria Pascual, Marc Martinell, Uwe Meya, Fanny Mochel
Summary: The effect of leriglitazone on disease progression in adult patients with adrenomyeloneuropathy was evaluated. The study found that leriglitazone did not significantly affect the change in the Six-Minute Walk Test distance, but it was generally well tolerated with adverse event rates in line with the expected safety profile for this drug class. Further investigation is needed to determine if leriglitazone can slow the progression of cerebral adrenoleukodystrophy.