Article
Biochemistry & Molecular Biology
Chao Huang, Huan Gong, Bin Mu, Xinting Lan, Chengcheng Yang, Jinlong Tan, Wentao Liu, Yuanfeng Zou, Lixia Li, Bin Feng, Xia He, Qihui Luo, Zhengli Chen
Summary: The barrier-to-autointegration factor-like protein (BAF-L) plays an important role in spermiogenesis and spermatozoal function. Its genetic deletion in mice impairs spermiogenesis and male fertility, and reduced testicular expression of BAF-L is a risk factor for human male infertility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Camilla Evangelisti, Isabella Rusciano, Sara Mongiorgi, Giulia Ramazzotti, Giovanna Lattanzi, Lucia Manzoli, Lucio Cocco, Stefano Ratti
Summary: B-type lamins are essential components of the nuclear lamina and play key roles in nuclear functions, cellular processes, and organogenesis. Mutations or fluctuations in their expression levels are critical for the onset of various diseases.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Cell Biology
Eftekhar Eftekharpour
Summary: Aging leads to age-associated diseases, particularly affecting the nervous system. Alzheimer's disease is a well-known example, characterized by the accumulation of neurofibrillary tangles and amyloid plaques. Therapeutic attempts targeting these aggregates have been unsuccessful, highlighting the need to understand the underlying mechanisms. Recent research has shown the importance of neuronal nucleus damage, specifically nuclear lamina damage, in the pathophysiology of the disease. This research perspective emphasizes the significance of targeting the neuronal nucleus for potential therapeutic interventions.
Article
Cell Biology
Rhiannon M. Sears, Kyle J. Roux
Summary: Mutations in LMNA and BANF1 genes can cause progeria, leading to accelerated aging. The proteins produced by these genes are involved in nuclear envelope rupture and repair processes. A-type lamins are recruited to the rupture sites in a BAF-dependent manner. Progeria-associated mutations inhibit the recruitment of A-type lamins to nuclear ruptures.
Article
Biochemistry & Molecular Biology
Yaser Gamallat, Xiang Fang, Hanran Mai, Xiaonan Liu, Hong Li, Pei Zhou, Dingding Han, Shuxin Zheng, Caihua Liao, Miaomiao Yang, Yan Li, Liandong Zuo, Ling Sun, Hao Hu, Na Li
Summary: Fsip1 is a crucial protein involved in spermiogenesis and flagellum formation, playing a role in acrosome biogenesis and intraflagellar transport proteins regulation. Deficiency of Fsip1 results in infertility and abnormal sperm morphology.
Article
Biochemistry & Molecular Biology
Ya-Lan Wei, Xiao-Jing Fan, Xin-Chen Lin, Ai-Zhu Lin, Zhen-Yu She, Xin-Rui Wang
Summary: In this study, we revealed the essential role of KIFC1 in regulating the trafficking, fusion, and maturation of acrosomal vesicles during spermiogenesis. Inhibition of KIFC1 resulted in structural deformities of acrosomes and multinucleated undifferentiated spermatogenic cells.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Yuri Y. Shevelyov
Summary: Heterochromatin is mainly localized at the nuclear periphery by interacting with the nuclear lamina and nuclear pore complexes. Recent studies have shown that these interactions play a crucial role in maintaining its peripheral localization, and there are differences in chromatin interactions with the nuclear envelope in cell populations and individual cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Anatomy & Morphology
Maider Bizkarguenaga, Laura Gomez-Santos, Juan Francisco Madrid, Francisco Jose Saez, Edurne Alonso
Summary: The study found that improper spermiogenesis leads to deregulation of ZP3R expression in globozoospermic spermatids, but even though the lack of GOPC causes failures in pre-acrosomal vesicle transport, the ZP3R protein still localizes in the acrosome and is only distributed through the cytoplasm during spermiogenesis.
MICROSCOPY RESEARCH AND TECHNIQUE
(2022)
Article
Biochemical Research Methods
Li-Chun Cheng, Xi Zhang, Kanishk Abhinav, Julie A. Nguyen, Sabyasachi Baboo, Salvador Martinez-Bartolome, Tess C. Branon, Alice Y. Ting, Esther Loose, John R. Yates, Larry Gerace
Summary: By using engineered biotin ligase TurboID and quantitative proteomics, this study explored the neighborhoods of Emerin and LBR in cultured mouse embryonic fibroblasts. The analysis revealed 232 high confidence proximity partners interacting selectively with Emerin and/or LBR, with 49 shared by both.
JOURNAL OF PROTEOME RESEARCH
(2022)
Review
Neurosciences
Foteini-Dionysia Koufi, Irene Neri, Giulia Ramazzotti, Isabella Rusciano, Sara Mongiorgi, Maria Vittoria Marvi, Antonietta Fazio, Minkyung Shin, Yoichi Kosodo, Ilaria Cani, Elisa Giorgio, Pietro Cortelli, Lucia Manzoli, Stefano Ratti
Summary: Lamin B1 plays a crucial role in brain development and aging. Its levels are important for normal brain development and function. Abnormal levels of Lamin B1 can lead to neurodegenerative disorders.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Review
Cell Biology
Yinuo Wang, Gergana Dobreva
Summary: Mutations in the LMNA gene cause laminopathies, a group of diverse diseases. LMNA-related cardiomyopathy is a common inherited heart disease with a poor prognosis. Research using mouse models, stem cells, and patient samples has characterized the phenotypic diversity caused by LMNA variants and contributed to understanding the molecular mechanisms underlying heart disease. This review focuses on the different cardiomyopathies caused by LMNA mutations, the role of LMNA in chromatin organization and gene regulation, and how these processes are disrupted in heart disease.
Editorial Material
Pharmacology & Pharmacy
Elizabeth R. Smith, Jing-Quan Wang, Dong-Hua Yang, Xiang Xi Xu
Summary: Taxanes are a group of successful drugs commonly used in chemotherapy to treat malignant tumors. However, drug resistance to taxanes is a common issue in subsequent treatments. In this review, the focus is on experimental findings and ideas related to the mechanism of taxane resistance involving the cancer nuclear envelope, aiming to provide new insights for overcoming taxane resistance.
DRUG RESISTANCE UPDATES
(2022)
Article
Plant Sciences
Joseph F. McKenna, Hardeep K. Gumber, Zachary M. Turpin, Alexis M. Jalovec, Andre C. Kartick, Katja Graumann, Hank W. Bass
Summary: The study demonstrates that nucleoskeletal proteins NCH1, NCH2, and MKAKU41 in maize have characteristic properties of LINC-associated plant nucleoskeletal proteins, impacting the nuclear periphery structure and overall nuclear architecture.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Cell Biology
Takanobu Moriuchi, Fumiko Hirose
Summary: RepoMan, a regulatory subunit of protein phosphatase 1 (PP1), is transiently modified with SUMO-2 during late telophase, which enhances its binding affinity with lamin A and contributes to the recruitment and dephosphorylation of lamin A. Transient SUMOylation of RepoMan plays a crucial role in the spatiotemporal regulation of lamin A dephosphorylation and subsequent nuclear lamina formation at the end of mitosis.
JOURNAL OF CELL SCIENCE
(2021)
Article
Multidisciplinary Sciences
Cheryl L. Smith, Yemin Lan, Rajan Jain, Jonathan A. Epstein, Andrey Poleshko
Summary: The nuclear architecture of rod photoreceptor cells in nocturnal mammals differs from that of other animal cells, with euchromatin and heterochromatin occupying opposite positions. This unique structure is achieved through global relabeling of the rod cell epigenome, involving histone modifications such as H3K9 methylation. This study highlights the significance of epigenetic changes in shaping nuclear architecture in postmitotic cells.
Article
Biochemical Research Methods
Solenn M. Guilbert, Deborah Cardoso, Nicolas Levy, Antoine Muchir, Xavier Nissan
Summary: Drug repurposing is an efficient and low-cost strategy, which has made significant progress in treating rare diseases in recent years.
Letter
Clinical Neurology
Mathieu Cerino, Emmanuelle Salort-Campana, Svetlana Gorokhova, Amandine Sevy, Nathalie Bonello-Palot, Nicolas Levy, Shahram Attarian, Marc Bartoli, Martin Krahn
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Genetics & Heredity
Abir Ben Haj Ali, Olfa Messaoud, Sahar Elouej, Faten Talmoudi, Wiem Ayed, Fethi Mellouli, Monia Ouederni, Sondes Hadiji, Annachiara De Sandre-Giovannoli, Valerie Delague, Nicolas Levy, Massimo Bogliolo, Jordi Surralles, Sonia Abdelhak, Ahlem Amouri
Summary: The population in North Africa exhibits a high consanguinity rate and a potentially high proportion of founder mutations, which may contribute to the prevalence of recessive genetic disorders like Fanconi anemia. In this study, clinical, cytogenetic, and molecular characterization of FANCA in 29 North African FA patients was conducted, revealing high rates of spontaneous chromosome breakages and identifying several causal mutations. Furthermore, three founder mutations were identified in a majority of Tunisian patients, highlighting the importance of considering the mutational landscape in genetic counseling.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Elena Gargaun, Sestina Falcone, Guilhem Sole, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean Francois Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Beroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Summary: This study found that long noncoding RNAs play important roles in Duchenne and Becker muscular dystrophy, particularly in regulating myocyte proliferation and differentiation with potential therapeutic implications. The research suggests that lncRNA44s2 may serve as an accelerator in muscle differentiation process and is associated with a favorable clinical phenotype.
Article
Genetics & Heredity
Alexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, Jon Andoni Urtizberea, Moiz Bakhiet, Catherine Robert, Nicolas Levy, Andre Megarbane, Valerie Delague, Marc Bartoli
Summary: Bi-allelic mutations in the STIM1 gene result in CRAC channelopathy syndrome, characterized by symptoms such as muscle weakness and hyperlaxity. A novel homozygous frameshift mutation in STIM1, identified in this study, leads to complete loss of the STIM1 protein. The findings broaden the spectrum of phenotypes associated with STIM1 mutations.
Article
Genetics & Heredity
Theo Charnay, Veronique Blanck, Mathieu Cerino, Marc Bartoli, Florence Riccardi, Nathalie Bonello-Palot, Christophe Pecheux, Karine Nguyen, Nicolas Levy, Svetlana Gorokhova, Martin Krahn
Summary: Recent advances in sequencing technologies and the establishment of international standards for variant interpretation have led to a significant shift in diagnostic approaches in clinical genetics. However, the reclassification of variants that were originally considered pathogenic is still lacking in scientific literature and variant databases, hindering the interpretation of diagnostic sequencing results.
GENETICS IN MEDICINE
(2021)
Letter
Infectious Diseases
Philippe Colson, Michael Finaud, Nicolas Levy, Jean-Christophe Lagier, Didier Raoult
JOURNAL OF INFECTION
(2021)
Article
Neurosciences
Constantin Tuleasca, Tatiana Witjas, Marc Levivier, Nadine Girard, Axelle Cretol, Nicolas Levy, Jean-Philippe Thiran, Eric Guedj, Dimitri Van de Ville, Jean Regis
Summary: This study discusses the treatment methods for tremors, including deep brain stimulation, radiofrequency lesioning, and stereotactic radiosurgery. The aim is to evaluate clinical responses and neuroimaging changes, and to explore the biological basis of tremor treatment using modern neuroimaging techniques.
STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
(2021)
Editorial Material
Physiology
Alexandra Salvi, Andre Maues De Paula, Nicolas Levy, Shahram Attarian, Marc Bartoli
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Clinical Neurology
Marie Subreville, Nathalie Bonello-Palot, Douniazed Yahiaoui, Sadia Beloribi-Djefaflia, Sara Fernandes, Tanya Stojkovic, Julien Cassereau, Yann Pereon, Andoni Echaniz-Laguna, Marie-Helene Violleau, Antoine Soulages, Sarah Leonard Louis, Marion Masingue, Armelle Magot, Emilien Delmont, Sabrina Sacconi, David Adams, Celine Labeyrie, Steeve Genestet, Jean-Baptiste Noury, Jean-Baptiste Chanson, Nicolas Levy, Raul Juntas-Morales, Celine Tard, Guilhem Sole, Shahram Attarian
Summary: This study retrospectively collected clinical and neurophysiological data of CMT patients with MPZ mutations in French reference centers. The results showed heterogeneous manifestations of MPZ mutations causing axonal or demyelinating neuropathy and different age groups. Patients with early and adult onset CMT had higher disease severity, which progressed with age. To optimize patient selection for upcoming trials, inclusion criteria should consider disease pathophysiology and select patients with mild to moderate severity and onset between 18 and 50 years.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Genetics & Heredity
Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, Sahar Elouej, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Summary: The study investigated the clinical characteristics and genetic defects in two families with atypical phenotypes from the central region of Tunisia. The patients showed mild cutaneous features and developed multiple skin cancers at later ages, with no neurological disorders. Targeted gene sequencing revealed novel variants in the ERCC4 and DDB2 genes in these patients.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Zine-Eddine Kherraf, Carolin Cazin, Amine Bouker, Selima Fourati Ben Mustapha, Sylviane Hennebicq, Amandine Septier, Charles Coutton, Laure Raymond, Marc Nouchy, Nicolas Thierry-Mieg, Raoudha Zouari, Christophe Arnoult, Pierre F. Ray
Summary: This study aims to improve the genetic diagnosis of non-obstructive azoospermia (NOA) by identifying new genes related to the condition and determining the chances of successful sperm extraction based on an individual's genotype. Exome sequencing revealed 16 potential genes causing defects in NOA. Interestingly, individuals with defects in meiotic genes had low or no chances of successful sperm retrieval.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Roland Abi Nahed, Magali Dhellemmes, Christine Payre, Emilie Le Blevec, Jean-Philippe Perrier, Sylviane Hennebicq, Jessica Escoffier, Pierre F. Ray, Corinne Loeuillet, Gerard Lambeau, Christophe Arnoult
Summary: The secreted phospholipase A2 (PLA2G10) plays an important role in mouse fertilization by enhancing acrosome reaction and secretion, improving fertilization rate, and binding to PLA2R1 on gametes. It is shown that the catalytic activity and PLA2R1 binding of PLA2G10 both contribute to its profertility effect, and the study provides new insights into the complexity of PLA2G10's action in optimizing fertilization.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Meeting Abstract
Clinical Neurology
Maude Vecten, Emmanuelle Pion, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cecile Acquaviva Bourdain, Corinne Metay, Isabelle Richard, Laurent Villard, Mathieu Cerino, Mathieu Milh, Svetlana Gorokhova, Nicolas Levy, X. Martin, Gisele Bonne, Valerie Biancalana, Francois Petit, Aurelien Perrin, Pascal Laforet, Marc Bartoli, Mireille Cossee, Martin Krahn
NEUROMUSCULAR DISORDERS
(2021)
Article
Oncology
Mossane Stocker, Louis-Romee Le Nail, Hubert De Belenet, Jay S. Wunder, Irene L. Andrulis, Nalan Gokgoz, Nicolas Levy, Jean -Camille Mattei, Sylviane Olschwang
Summary: Liposarcomas are a heterogeneous group of sarcomas that require complete surgical resection and radiotherapy to prevent local recurrence. Understanding the genetic abnormalities that lead to liposarcoma initiation is crucial for the development of targeted therapies. Novel treatments targeting gene products of chromosome 12 are currently being considered in clinical trials to improve tumor control and survival rates.
AMERICAN JOURNAL OF CANCER RESEARCH
(2021)
Article
Obstetrics & Gynecology
Alice Newman-Sanders, Jackson C. Kirkman-Brown, Meurig T. Gallagher
Summary: This study revealed a significant lack of awareness among young adults in the UK regarding the potential impacts of gym lifestyles and supplementation on male infertility. Men were found to have a concerning lack of concern for their own fertility, with differences in awareness levels between men and women. It was also observed that men were more likely to consider making changes to their behavior if it had a long-term impact on their fertility compared to short-term effects.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Shachar Reuvenny, Michal Youngster, Almog Luz, Rohi Hourvitz, Ettie Maman, Micha Baum, Ariel Hourvitz
Summary: Using a machine-learning model to determine the optimal trigger days can improve the outcomes of antagonist protocol cycles in freeze-all or fresh transfer cycles, for all age groups. Implementing these models can more accurately predict the number of retrieved oocytes, optimizing physicians' decisions, balancing workloads, and creating more standardized yet patient-specific protocols.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Chao Chen, Qi Wen, Feng Deng, Rong Li, Ying Wang, Xiumei Zhen, Jing Hang
Summary: This study investigates the proteomic and phosphoproteomic differences in the endometrium of women with recurrent pregnancy loss (RPL) compared to healthy control women during different phases of the menstrual cycle. The results identify differentially expressed proteins and phosphorylated proteins, and highlight the insulin/cyclic nucleotide signalling pathway and AMPK/mTOR signalling pathway as major contributors to the abnormality of RPL endometrium. The findings provide insights into potential proteins associated with the pathogenesis of RPL and contribute to the identification of potential targets for RPL treatment.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Jaime Guerrero, Juan Carlos Castillo, Jorge Ten, Jose Antonio Ortiz, Belen Lledo, Domingo Orozco, Francisco Quereda, Andrea Bernabeu, Rafael Bernabeu
Summary: The study found no significant differences in clinical outcomes between using oocytes obtained from random-start protocols and those from conventional ovarian stimulation in oocyte donation treatments. Luteal-phase stimulation required longer stimulation and higher FSH consumption.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
