Article
Genetics & Heredity
Jessica Galli, Enza Maria Valente, Joseph Dewulf, Alessandra Franzoni, Sandrine Marie, Massimo Plumari, Federica Zanetti, Elisa Fazzi
Summary: 5-Amino-4-imidazolecarboxamide-ribosiduria (AICA-ribosiduria) is an extremely rare inborn error of purine biosynthesis metabolism. This study reports two new cases of AICA-ribosiduria with milder symptoms compared to previously reported patients. The study also found abnormal accumulation of purine biosynthesis intermediates in the urine of these patients.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Medicine, Research & Experimental
Camila Para, Poulomee Bose, Luigi Bruno, Erika Freemantle, Mahsa Taherzadeh, Xuefang Pan, Chanshuai Han, Peter S. McPherson, Jean-Claude Lacaille, Eric Bonneil, Pierre Thibault, Claire O'Leary, Brian Bigger, Carlos Ramon Morales, Graziella Di Cristo, Alexey Pshezhetsky
Summary: Studies have shown that patients with lysosomal storage disorders exhibit neurological symptoms, with MPSIIIC patients experiencing severe neuropsychiatric issues and dementia. Research suggests that clinical manifestations before massive neurodegeneration may be due to synaptic dysfunction, which can be rescued through gene correction. Furthermore, early alterations in synaptic structure and neurotransmission abnormalities have been observed in neurological LSD patients, indicating that targeting synaptic defects could potentially treat behavioral and cognitive deficits in these patients.
Article
Biochemistry & Molecular Biology
Huanhuan Ren, Kaixian Wang, Zirui Liu, Xuansheng Zhong, Meng Liang, Yaping Liao
Summary: Folate deficiency is associated with male subfertility and impaired spermatogenesis. This study established an animal model of folate deficiency and found that it leads to decreased sperm counts and increased defects in sperm head. Folate deficiency also induces chromosomal instability and dysfunction of the spindle assembly checkpoint.
DNA AND CELL BIOLOGY
(2023)
Article
Genetics & Heredity
Susanna K. Birnbaum, Jennifer D. Cohen, Alexandra Belfi, John I. Murray, Jennifer R. G. Adams, Andrew D. Chisholm, Meera V. Sundaram
Summary: This study investigated the secretion and assembly of collagen proteins in C. elegans using endogenous collagen fusions to fluorescent proteins. The researchers found that cuticle collagens SQT-3 and DPY-17 are secreted into the extraembryonic space several hours before cuticle matrix assembly, and this early secretion depends on the PCSK BLI-4. The study also revealed that in bli-4 and cleavage-site mutants, SQT-3 and DPY-17 are not efficiently secreted. These findings highlight the importance of collagen N-terminal processing in intracellular trafficking and matrix assembly.
Review
Biochemistry & Molecular Biology
Christopher W. Fell, Vanja Nagy
Summary: Intellectual disabilities are a type of neurodevelopmental disorder that may have a genetic cause. The use of cellular models for establishing genetic causality and high-throughput screening of chemical or genetic perturbations can provide valuable insights. Researchers are exploring a class of intellectual disabilities centered around RAC1 and working on improving HTS methodologies for studying neurological disorders.
TRENDS IN MOLECULAR MEDICINE
(2021)
Editorial Material
Oncology
J. Louise Jones, Richard Poulsom, Philip J. Coates
Summary: The 2023 Annual Review Issue of The Journal of Pathology, Recent Advances in Pathology, features 12 invited reviews on current topics in pathology. The reviews cover areas such as immuno-oncology, computational pathology, tissue micro-environment, molecular basis of malignancies, and vascular and lymphatic regeneration in cardiac disease. All reviews are written by expert authors and are freely available online.
JOURNAL OF PATHOLOGY
(2023)
Article
Dermatology
M. Arenbergerova, P. Arenberger, S. Gkalpakiotis, E. Sticova, H. Hulkova, O. Trhlikova, J. Sikora
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2020)
Article
Genetics & Heredity
Filip Majer, Bohdan Kousal, Petr Dusek, Lenka Piherova, Martin Reboun, Romana Mihalova, Jiri Gurka, Alice Krebsova, Hana Vlaskova, Lenka Dvorakova, Jana Krihova, Petra Liskova, Stanislav Kmoch, Tomas Kalina, Milos Kubanek, Jakub Sikora
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Article
Biochemistry & Molecular Biology
Ivana Jedlickova, Maxime Cadieux-Dion, Anna Pristoupilova, Viktor Stranecky, Hana Hartmannova, Katerina Hodanova, Veronika Baresova, Helena Hulkova, Jakub Sikora, Lenka Noskova, Dita Musalkova, Petr Vyletal, Jana Sovova, Patrick Cossette, Eva Andermann, Frederick Andermann, Stanislav Kmoch
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Ophthalmology
Bohdan Kousal, Filip Majer, Hana Vlaskova, Lenka Dvorakova, Lenka Piherova, Martin Meliska, Hana Langrova, Tomas Palecek, Milos Kubanek, Alice Krebsova, Jiri Gurka, Veronika Stara, Michel Michaelides, Tomas Kalina, Jakub Sikora, Petra Liskova
Summary: DD patients with advanced cardiomyopathy showed pigmentary retinopathy, visual field loss, and altered autofluorescence. Retinal pathology severity increased with age, with marked cone-rod involvement over time. Detailed ocular examination can be a sensitive screening tool for identifying carriers ofLAMP2pathogenic variants.
ACTA OPHTHALMOLOGICA
(2021)
Article
Urology & Nephrology
Martina Zivna, Kendrah Kidd, Mohamad Zaidan, Petr Vyletal, Veronika Baresova, Katerina Hodanova, Jana Sovova, Hana Hartmannova, Miroslav Votruba, Helena Treslova, Ivana Jedlickova, Jakub Sikora, Helena Hulkova, Victoria Robins, Ales Hnizda, Jan Zivny, Gregory Papagregoriou, Laurent Mesnard, Bodo B. Beck, Andrea Wenzel, Kalman Tory, Karsten Haeeffner, Matthias T. F. Wolf, Michael E. Bleyer, John A. Sayer, Albert C. M. Ong, Lidia Balogh, Anna Jakubowska, Agnieszka Laszkiewicz, Rhian Clissold, Charles Shaw-Smith, Raj Munshi, Robert M. Haws, Claudia Izzi, Irene Capelli, Marisa Santostefano, Claudio Graziano, Francesco Scolari, Amy Sussman, Howard Trachtman, Stephane Decramer, Marie Matignon, Philippe Grimbert, Lawrence R. Shoemaker, Christoforos Stavrou, Mayssa Abdelwahed, Neila Belghith, Matthew Sinclair, Kathleen Claes, Tal Kopel, Sharon Moe, Constantinos Deltas, Bertrand Knebelmann, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
KIDNEY INTERNATIONAL
(2020)
Article
Cardiac & Cardiovascular Systems
Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova, Ondrej Pelak, Alice Krebsova, Petr Peichl, Jan Krejci, Tomas Freiberger, Vojtech Melenovsky, Josef Kautzner, Tomas Kalina, Jakub Sikora, Milos Kubanek
Article
Clinical Neurology
Ivana Jedlickova, Anna Pristoupilova, Helena Hulkova, Alena Vrbacka, Viktor Stranecky, Eva Hruba, Pavel Jesina, Tomas Honzik, Ivan Hrdlicka, Jiri Fremuth, Kristyna Pivovarcikova, Ibrahim Bitar, Radoslav Matej, Stanislav Kmoch, Jakub Sikora
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Josef Marek, Petr Kuchynka, Vladimir Mikulenka, Tomas Palecek, Jakub Sikora, Helena Hulkova, Lukas Lambert, Hana Linkova, David Zemanek, Marketa Tesarova, Ales Linhart, Jiri Zeman, Martin Magner
Summary: MPS VII is a rare lysosomal storage disorder caused by mutations in the GUSB gene. Patients often present with cardiac and valvular impairment. Surgical intervention can lead to significant improvement in clinical symptoms.
CARDIOVASCULAR PATHOLOGY
(2021)
Article
Genetics & Heredity
Randall C. Mazzarino, Veronika Baresova, Marie Zikanova, Nathan Duval, Terry G. Wilkinson, David Patterson, Guido N. Vacano
MOLECULAR GENETICS AND METABOLISM REPORTS
(2020)
Letter
Clinical Neurology
Jakub Sikora, Ivana Jedlickova, Anna Pristoupilova, Viktor Stranecky, Tomas Honzik
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Urology & Nephrology
Jakub Sikora, Tereza Kmochova, Dita Musalkova, Michal Pohludka, Petr Prikryl, Hana Hartmannova, Katerina Hodanova, Helena Treslova, Lenka Noskova, Lenka Mrazova, Viktor Stranecky, Mariia Lunova, Milan Jirsa, Eva Honsova, Surendra Dasari, Ellen D. McPhail, Nelson Leung, Martina Zivna, Anthony J. Bleyer, Ivan Rychlik, Romana Rysava, Stanislav Kmoch
Summary: Amyloid A amyloidosis is a serious clinical condition characterized by the deposition of amyloid A originating from serum amyloid A proteins. This study describes a family with primary amyloid A amyloidosis caused by a mutation in the SAA1 promoter gene. The mutation leads to increased serum amyloid A levels and the development of kidney disease.
KIDNEY INTERNATIONAL
(2022)
Article
Multidisciplinary Sciences
Randall C. Mazzarino, Veronika Baresova, Marie Zikanova, Nathan Duval, Terry G. Wilkinson, David Patterson, Guido N. Vacano
Summary: This study characterized the transcriptomes of crGART and HeLa cells under purine-supplemented and purine-depleted conditions, revealing multiple transcriptome changes and pathways relevant to Alzheimer's disease and Down syndrome. The differential expression of the CD36 gene in crGART highlighted its importance in the context of GART activity deficiency.
Article
Biology
Ilaria Dutto, Julian Gerhards, Antonio Herrera, Olga Souckova, Vaclava Skopova, Jordann A. Smak, Alexandra Junza, Oscar Yanes, Cedric Boeckx, Martin D. Burkhalter, Marie Zikanova, Sebastian Pons, Melanie Philipp, Jens Luders, Travis H. Stracker
Summary: ADSL deficiency causes neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. Reduced purine levels and impaired de novo purine synthesis contribute to the pathology, while defective ciliogenesis may influence the phenotypic spectrum of ADSLD.
Letter
Genetics & Heredity
Filip Majer, Jakub Sikora
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Lucie Madrova, Olga Souckova, Radana Brumarova, Dana Dobesova, Jan Vaclavik, Stepan Kouril, Julie de Sousa, Jaroslava Friedecka, David Friedecky, Veronika Baresova, Marie Zikanova, Tomas Adam
Summary: This study investigated the metabolic changes in CRISPR-Cas9 genome-edited HeLa cells deficient in purine de novo synthesis (PDNS) enzymes. The results showed that deficiencies in key enzymes of PDNS affected the pool of purine nucleotides and methylation activity.