Article
Genetics & Heredity
Milena Dimori, Irina D. Pokrovskaya, Shijie Liu, John T. Sherrill, Horacio Gomez-Acevedo, Qiang Fu, Brian Storrie, Vladimir V. Lupashin, Roy Morello
Summary: Smith McCort (SMC) dysplasia is a rare autosomal recessive disorder caused by pathogenic variants in RAB33B or DYM genes, which are involved in intracellular vesicle trafficking. The study demonstrates that a Rab33b disease-causing variant in mice leads to bone resorption defects, as evidenced by increased bone thickness and altered osteoclast function. These findings suggest the potential role of RAB33B in osteoclast function and protein glycosylation in SMC, providing insights for future research.
FRONTIERS IN GENETICS
(2023)
Article
Multidisciplinary Sciences
Synne Arstad Bjornestad, Noemi Antonella Guadagno, Ingrid Kjos, Cinzia Progida
Summary: In this study, we identified Rab33b as a crucial regulator of cell migration by modulating the delivery of integrins to focal adhesions. Rab33b interacts with Exoc6, a subunit of the exocyst complex, to mediate the postGolgi transport to the plasma membrane. These findings highlight the significance of Rab33b in cellular processes beyond intracellular trafficking.
Article
Orthopedics
Noor ul Ain, Zunaira Fatima, Sadaf Naz, Outi Makitie
Summary: This study identified genetic variants in two unrelated consanguineous families with skeletal dysplasia and short stature, showcasing different phenotypic characteristics. The findings expand the genotypic spectrum of RAB33B variants and highlight the phenotypic homogeneity of patients with PCNT variants.
BMC MUSCULOSKELETAL DISORDERS
(2021)
Review
Medicine, Research & Experimental
Jianyang Liu, Yan Huang, Ting Li, Zheng Jiang, Liuwang Zeng, Zhiping Hu
Summary: The Golgi apparatus plays a crucial role in cellular homeostasis and is linked to various diseases. Mutations in genes encoding Golgi resident proteins can lead to diseases, typically involving defects in membrane trafficking, protein mislocalization, and impaired glycosylation. Detection of Golgi resident proteins in human serum samples may serve as a diagnostic tool, while the central role of Golgi apparatus in membrane trafficking pathways presents potential targets for disease therapy.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2021)
Review
Cell Biology
Akihiko Nakano
Summary: The structure of the Golgi apparatus varies among different species, but its functions remain conserved. In addition to the core layers of cisternae, the Golgi is accompanied by neighboring compartments on its cis and trans sides. High-resolution live imaging has revealed striking similarities in the behaviors of these compartments, indicating the presence of conserved mechanisms.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Lana Buzuk, Doris Hellerschmied
Summary: The Golgi apparatus plays a crucial role in the secretory pathway of eukaryotic cells, processing proteins and organizing their transportation to other cellular compartments. It is involved in cell surface formation, cell polarity, cell-cell communication, immune signaling, DNA damage response, and mitosis. Maintaining Golgi integrity and protein homeostasis is essential, as Golgi fragmentation and dysfunction are linked to neurodegenerative diseases and certain cancers. Recent studies have revealed the importance of ubiquitin signaling in maintaining Golgi integrity and protein quality control, similar to the endoplasmic reticulum. Ubiquitination helps prevent the accumulation of toxic protein aggregates and regulates Golgi structural rearrangements in response to cellular stress.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Meilan Chen, Lu Xu, Yi Wu, Peter Soba, Chun Hu
Summary: Dendrites are specialized compartments in neurons that sense, integrate, and transfer information. Abnormal dendrite development is strongly linked to neurological disorders. The Golgi apparatus, located at the center of the secretory pathway, plays a crucial role in posttranslational modifications, sorting, transport, and signal transduction. It also forms distinct structures known as Golgi outposts in dendrites. However, the organization and function of Golgi in dendrite development and its impact on neurological disorders are still not well understood and lack a comprehensive summary.
Article
Anatomy & Morphology
Daniel Talamas-Lara, Karla Acosta-Virgen, Bibiana Chavez-Munguia, Anel Lagunes-Guillen, Lizbeth Salazar-Villatoro, Martha Espinosa-Cantellano, Adolfo Martinez-Palomo
Summary: The study discovered previously undetected Golgi apparatus components in the cytoplasm of E. histolytica and E. dispar, challenging the traditional view that these amoebae lack Golgi apparatus.
MICROSCOPY RESEARCH AND TECHNIQUE
(2021)
Article
Chemistry, Multidisciplinary
Weiyi Tan, Qiuxin Zhang, Jiaqing Wang, Meihui Yi, Hongjian He, Bing Xu
Summary: Introducing a sulfur atom into phosphopeptides enables rapid targeting of Golgi apparatus and selective killing of cancer cells. The resulting thiophosphopeptide self-assembles after alkaline phosphatase-catalyzed dephosphorylation, enters cells, and accumulates in Golgi apparatus, inhibiting cancer cells effectively.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2021)
Article
Chemistry, Multidisciplinary
Rong Sheng Li, Jiahui Liu, Hu Shi, Ping Ping Hu, Yao Wang, Peng Fei Gao, Jian Wang, Moye Jia, Hongwei Li, Yuan Fang Li, Chengde Mao, Na Li, Cheng Zhi Huang
Summary: Golgi apparatus-targeted nano-mechanical disruption is an attractive approach for killing cancer cells by multimodal mechanism and avoiding drug resistance. The transformable peptide C6RVRRF4KY can self-assemble into nontoxic nanoparticles in aqueous medium but transformed into left-handed helical fibrils (L-HFs) after targeting and furin cleavage in the Golgi apparatus of cancer cells, leading to mechanical disruption and death of cancer cells without acquired drug resistance. This nanomechanical disruption concept should also be applicable to multidrug-resistant bacteria and viruses.
Article
Engineering, Biomedical
Haohuan Li, Caifeng Deng, Yulu Tan, Jianxia Dong, Yuanhao Zhao, Xiaorong Wang, Xingyue Yang, Jingwen Luo, Huile Gao, Yuan Huang, Zhi-Rong Zhang, Tao Gong
Summary: This study presents a promising approach for photodynamic immunotherapy of advanced cancers by using chondroitin sulfate-based prodrug nanoparticles to co-deliver a photosensitizer and retinoic acid. This approach can reduce the immunosuppression caused by photodynamic therapy and promote the maturation of dendritic cells. The strategy showed excellent antitumor efficacy in a mouse model.
ACTA BIOMATERIALIA
(2022)
Review
Cell Biology
Aurel George Mohan, Bogdan Calenic, Nicu Adrian Ghiurau, Roxana-Maria Duncea-Borca, Alexandra-Elena Constantinescu, Ileana Constantinescu
Summary: This comprehensive review article delves into the Golgi apparatus, a crucial organelle in cellular biology. It discusses its unique organization and roles in maintaining cellular homeostasis through protein processing, sorting, and lipid biogenesis. The article also explores the relationship between Golgi function and neurodegenerative diseases, particularly Parkinson's, as well as the interplay between Golgi stress and endoplasmic reticulum stress in cellular stress response pathways. Overall, the review emphasizes the importance of further research in understanding Golgi dysfunction and its potential for targeted therapeutic approaches.
Review
Chemistry, Analytical
Rong Sheng Li, Cong Wen, Cheng Zhi Huang, Na Li
Summary: The Golgi apparatus in eukaryotic cells plays a crucial role in biosynthesis, secretion, and intracellular signaling. Dysfunctions in the Golgi apparatus are associated with various diseases. Sensitivity and selectivity in imaging the Golgi structure and related biomolecules have provided valuable tools for understanding the relationship between Golgi structure and function, as well as Golgi-related diseases. Recent advancements in Golgi-targeting strategies, imaging methods, and nanotechnologies have opened up possibilities for Golgi-targeted biosensing, drug discovery, and therapy. This review summarizes the different strategies for Golgi imaging and therapy, discusses their advantages and limitations, and highlights potential future directions.
TRAC-TRENDS IN ANALYTICAL CHEMISTRY
(2022)
Article
Cell Biology
Ilenia Agliarulo, Seetharaman Parashuraman
Summary: This article discusses the central role of the Golgi apparatus in the mammalian secretory pathway and its regulation of plasma membrane biosynthesis through three distinct processes. It also explores the importance of the molecules involved in these processes in physiology and development, as well as how mutations in these molecules can lead to genetic diseases and cancer.
Article
Multidisciplinary Sciences
Purnati Khuntia, Simran Rawal, Rituraj Marwaha, Tamal Das
Summary: The Golgi apparatus moves from an apical position to a basal position during epithelial cell migration, driven by actin cytoskeleton instead of microtubules. The interaction between Golgi and actin is mediated by actin projections, which is critical for cell migration.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Charlotte von der Lippe, Kristian Tveten, Trine E. Prescott, Oystein L. Holla, Oyvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Julia Baptista, Andrew E. Fry, Derek Lim, Stephen Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faltera, Salvador Climent, Roser Urreitzi, Janet Hoenicka, Francesc Palau, Ana S. A. Cohen, Kendra Engleman, Dihong Zhou, Shivarajan M. Amudhavalli, Mederic Jeanne, Frederique Bonnet-Brilhault, Jonathan Levy, Severine Drunat, Nicolas Derive, Marte G. Haug, Wenche M. Thorstensen
Summary: By clinical whole exome sequencing, a total of 12 individuals with a rare genetic disorder were identified, characterized by intellectual disability, macrocephaly, and overgrowth of adenoid tissue. These individuals all carried a rare heterozygous variant in the ZBTB7A gene, resulting in consistent phenotypes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Neurosciences
Quentin Leyrolle, Fanny Decoeur, Cyril Dejean, Galadriel Briere, Stephane Leon, Ioannis Bakoyiannis, Emilie Baroux, Tony-Lee Sterley, Clementine Bosch-Bouju, Lydie Morel, Camille Amadieu, Cynthia Lecours, Marie-Kim St-Pierre, Maude Bordeleau, Veronique De Smedt-Peyrusse, Alexandran Sere, Leslie Schwendimann, Stephane Gregoire, Lionel Bretillon, Niyazi Acar, Corinne Joffre, Guillaume Ferreira, Raluca Uricaru, Patricia Thebault, Pierre Gressens, Marie-Eve Tremblay, Sophie Laye, Agnes Nadjar
Summary: Westernized dietary habits leading to reduced intake of n-3 PUFAs may be associated with neurodevelopmental disorders and disruptions in brain functional connectivity. Lifelong n-3 PUFA deficiency can interfere with oligodendrocyte maturation and myelination processes, resulting in long-term detrimental effects on white matter organization and hippocampus-prefrontal functional connectivity. Promoting developmental myelination through clemastine could rescue memory deficits in n-3 PUFA deficient animals.
Article
Pediatrics
Kathryn A. Martinello, Christopher Meehan, Adnan Avdic-Belltheus, Ingran Lingam, Tatenda Mutshiya, Qin Yang, Mustafa Ali Akin, David Price, Magdalena Sokolska, Alan Bainbridge, Mariya Hristova, Ilias Tachtsidis, Cally J. Tann, Donald Peebles, Henrik Hagberg, Tim G. A. M. Wolfs, Nigel Klein, Boris W. Kramer, Bobbi Fleiss, Pierre Gressens, Xavier Golay, Nicola J. Robertson
Summary: Therapeutic hypothermia did not show protection in a piglet model of inflammation-sensitized hypoxia-ischemia, as evidenced by aEEG, MRS, and immunohistochemistry. The immunosuppressive effects of hypothermia and the counteracting neuroinflammation by LPS may have led to the lack of efficacy of hypothermia in this context. Other immunomodulatory strategies may be more effective in treating inflammation-sensitized hypoxia-ischemia injuries.
PEDIATRIC RESEARCH
(2022)
Review
Cell Biology
Sarah Farcy, Alexandra Albert, Pierre Gressens, Alexandre D. Baffet, Vincent El Ghouzzi
Summary: Understanding how the brain develops and achieves its final size is a fascinating issue. Animal models have been valuable in studying cortical development, but human specificities require appropriate models. The development of brain organoids from induced pluripotent stem cells (iPSCs) now allows for the modeling of human microcephaly and the study of its cellular and molecular mechanisms.
Article
Genetics & Heredity
Myriam Vezain, Christel Thauvin-Robinet, Yoann Vial, Sophie Coutant, Severine Drunat, Jon Andoni Urtizberea, Anne Rolland, Agnes Jacquin-Piques, Severine Fehrenbach, Gael Nicolas, Francois Lecoquierre, Pascale Saugier-Veber
Summary: This study presents the first example of a retrotransposon insertion as a pathogenic mutation in the SMN1 gene, highlighting the role of retrotransposons in human genetic disorders. The findings provide insights into the disease mechanism of spinal muscular atrophy and contribute to our understanding of genetic mutations.
Review
Biochemistry & Molecular Biology
Alice Jacquens, Edward J. Needham, Elisa R. Zanier, Vincent Degos, Pierre Gressens, David Menon
Summary: Head trauma is a common cause of disability in young adults, and cranial trauma in children has particularities in terms of epidemiology, mechanism, and physiopathology. The long-term repercussions of head trauma can be attributed to chronic neuroinflammation, a complex process involving various actors. Numerous studies have explored different anti-inflammatory therapies for traumatic brain injury.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Abi G. Yates, Elena Kislitsyna, Carla Alfonso Martin, Jiaying Zhang, Amy L. Sewell, Ane Goikolea-Vives, Valerie Cai, Lama F. Alkhader, Aleksander Skaland, Basil Hammond, Ralica Dimitrova, Dafnis Batalle, Cathy Fernandes, A. David Edwards, Pierre Gressens, Claire Thornton, Helen B. Stolp
Summary: In this study, the efficacy of montelukast in a mouse model of encephalopathy of prematurity (EoP) was evaluated. The results showed that montelukast can attenuate inflammation, improve grey matter neuropathology, and ameliorate behavior deficits, suggesting that early administration of repurposed montelukast may improve the development and outcome of EoP.
JOURNAL OF NEUROINFLAMMATION
(2022)
Article
Neurosciences
Maria Sbeih, Benedicte Oules, Mansour Alkobtawi, Leslie Schwendimann, Qui Trung Ngo, Romain Fontaine, Natacha Teissier, Pierre Gressens, Selim Aractingi
Summary: Low doses of CCL2 can limit brain excitotoxic damage in post-partum mice by enhancing the recruitment of fetal microchimeric cells to the damaged hemisphere.
NEUROBIOLOGY OF DISEASE
(2022)
Review
Cell Biology
Justine Masson, Vincent El Ghouzzi
Summary: This article discusses how the loss-of-function of GA and GA-associated proteins leads to ciliary defects and ciliopathies.
Article
Clinical Neurology
Cindy Bokobza, Alice Jacquens, David Guenoun, Blandine Bianco, Anne Galland, Maxime Pispisa, Alexandra Cruz, Manuela Zinni, Valerie Faivre, Anne Roumier, Sophie Lebon, Tania Vitalis, Zsolt Csaba, Tifenn Le Charpentier, Leslie Schwendimann, Pierrette Young-Ten, Vincent Degos, Patricia Monteiro, Pascal Dournaud, Pierre Gressens, Juliette Van Steenwinckel
Summary: Approximately 15 million babies are born prematurely every year, and many of them will face motor and cognitive deficits in their lifetime. Systemic inflammation-induced neuroinflammation is a prominent process of perinatal brain injuries, especially white matter injuries (WMI). Serotonin and its receptors, particularly HTR7, play a significant role in inflammation regulation. The study suggests that targeting HTR7 may serve as an innovative therapeutic strategy to protect the developing brain from preterm brain injuries.
JOURNAL OF NEURAL TRANSMISSION
(2023)
Article
Multidisciplinary Sciences
Vincent El Ghouzzi, Gaelle Boncompain
Summary: Association genetic studies and genome-scale CRISPR screens have identified ARF3 and TMEM251/LYSET/GCAF as Golgi-resident factors essential for brain and skeletal development. The consequences of mutations in these genes affect endosomal and lysosomal compartments, but the problem originates in the Golgi complex and may involve the identity of carrier vesicles or cargo molecules.
NATURE COMMUNICATIONS
(2022)
Article
Clinical Neurology
Tanya Stojkovic, Marion Masingue, Corinne Metay, Norma B. Romero, Bruno Eymard, Rabah Ben Yaou, Laetitia Rialland, Severine Drunat, Corine Gartioux, Isabelle Nelson, Valerie Allamand, Gisele Bonne, Rocio Nur Villar-Quiles
Summary: We report three siblings with a contractural limb-girdle phenotype and intrafamilial variability in a non-consanguineous family. Muscle MRI revealed involvement of the posterior thigh and quadriceps with a sandwich-like sign. Whole exome sequencing identified two compound heterozygous missense TTN variants and one heterozygous LAMA2 variant. Further brain MRI revealed white-matter abnormalities, and genetic analysis confirmed a novel pathogenic intronic LAMA2 variant for the LAMA2-RD diagnosis. This work emphasizes the importance of comprehensive clinical phenotyping and brain imaging to guide and interpret genetic analysis.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Genetics & Heredity
F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Severine Drunat, Marie Vincent, Agnes Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
Summary: The majority of human genes undergo alternative splicing to generate multiple isoforms, and the regulation of these isoforms is crucial for development and function. The spliceosome, composed of small nuclear ribonucleoproteins (snRNPs), is responsible for splicing reactions. The snRNA gene transcription is initiated by SNAPc. In this study, ten individuals with bi-allelic SNAPC4 variants were identified. These variants led to motor developmental delay, regression, spasticity, and brain volume loss. The decrease in SNAPC4 levels resulted in reduced snRNA expression and dysregulation of alternative splicing. These findings demonstrate that bi-allelic SNAPC4 variants cause loss of function and contribute to neuroregression and progressive spasticity in affected individuals.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Neurosciences
Juliette Van Steenwinckel, Cindy Bokobza, Mireille Laforge, Isabelle K. Shearer, Veronique E. Miron, Rejane Rua, Samantha M. Matta, Elisa L. Hill-Yardin, Bobbi Fleiss, Pierre Gressens
Summary: Approximately one in 10 babies are born preterm, and up to 50% of preterm infants develop encephalopathy of prematurity (EoP) that increases the risk of lifelong cognitive defects. Glial cells play a key role in the development of a healthy brain, but glial dysfunction is a hallmark of EoP. However, our understanding of glial biology is not sufficient for the development of effective neuroregenerative therapies.
Review
Neurosciences
Rosa C. Paolicelli, Amanda Sierra, Beth Stevens, Marie-Eve Tremblay, Adriano Aguzzi, Bahareh Ajami, Ido Amit, Etienne Audinat, Ingo Bechmann, Mariko Bennett, Frederick Bennett, Alain Bessis, Knut Biber, Staci Bilbo, Mathew Blurton-Jones, Erik Boddeke, Dora Brites, Bert Brone, Guy C. Brown, Oleg Butovsky, Monica J. Carson, Bernardo Castellano, Marco Colonna, Sally A. Cowley, Colm Cunningham, Dimitrios Davalos, Philip L. De Jager, Bart de Strooper, Adam Denes, Bart J. L. Eggen, Ukpong Eyo, Elena Galea, Sonia Garel, Florent Ginhoux, Christopher K. Glass, Ozgun Gokce, Diego Gomez-Nicola, Berta Gonzalez, Siamon Gordon, Manuel B. Graeber, Andrew D. Greenhalgh, Pierre Gressens, Melanie Greter, David H. Gutmann, Christian Haass, Michael T. Heneka, Frank L. Heppner, Soyon Hong, David A. Hume, Steffen Jung, Helmut Kettenmann, Jonathan Kipnis, Ryuta Koyama, Greg Lemke, Marina Lynch, Ania Majewska, Marzia Malcangio, Tarja Malm, Renzo Mancuso, Takahiro Masuda, Michela Matteoli, Barry W. McColl, Veronique E. Miron, Anna Victoria Molofsky, Michelle Monje, Eva Mracsko, Agnes Nadjar, Jonas J. Neher, Urte Neniskyte, Harald Neumann, Mami Noda, Bo Peng, Francesca Peri, V. Hugh Perry, Phillip G. Popovich, Clare Pridans, Josef Priller, Marco Prinz, Davide Ragozzino, Richard M. Ransohoff, Michael W. Salter, Anne Schaefer, Dorothy P. Schafer, Michal Schwartz, Mikael Simons, Cody J. Smith, Wolfgang J. Streit, Tuan Leng Tay, Li-Huei Tsai, Alexei Verkhratsky, Rommy von Bernhardi, Hiroaki Wake, Valerie Wittamer, Susanne A. Wolf, Long-Jun Wu, Tony Wyss-Coray
Summary: Microglial research has made significant progress, but the current classification system fails to accurately describe their diversity, leading to misconceptions about their functions. To address this issue, a group of multidisciplinary experts has proposed a naming framework and recommendations to help researchers better understand and describe the different states and functions of microglia.