Article
Biology
Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Manian, Lauren Winschel, Stefanie Volland, Celia A. Soto, Chad A. Galloway, Whitney Spencer, Michael Roll, Caroline Milliner, Vera L. Bonilha, Tyler B. Johnson, Lisa Latchney, Jill M. Weimer, Erika F. Augustine, Jonathan W. Mink, Vamsi K. Gullapalli, Mina Chung, David S. Williams, Ruchira Singh
Summary: Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, affecting the phagocytosis of photoreceptor outer segments by retinal pigment epithelium (RPE) cells. Patient-derived cells show that CLN3 is essential for RPE cell structure and phagocytosis, suggesting potential for gene therapy targeting RPE cells in treating CLN3 disease.
COMMUNICATIONS BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Nouf N. Laqtom, Wentao Dong, Uche N. Medoh, Andrew L. Cangelosi, Vimisha Dharamdasani, Sze Ham Chan, Tenzin Kunchok, Caroline A. Lewis, Ivonne Heinze, Rachel Tang, Christian Grimm, An N. Dang Do, Forbes D. Porter, Alessandro Ori, David M. Sabatini, Monther Abu-Remaileh
Summary: Lysosomes play crucial roles in cellular function, and dysfunction is associated with various human diseases. The study reveals the importance of CLN3 protein in glycerophospholipid metabolism within lysosomes, as its loss leads to massive accumulation of GPDs.
Article
Biotechnology & Applied Microbiology
Pengfei Zhai, Landan Shi, Guowei Zhong, Jihong Jiang, Jingwen Zhou, Xin Chen, Guokai Dong, Lei Zhang, Rongpeng Li, Jinxing Song
Summary: The OxrA protein in Aspergillus fumigatus is a core regulator of oxidative stress resistance and fungal pathogenesis. Its deficiency decreases virulence and alters the host immune response, indicating that inhibiting OxrA could be an effective approach for treating A. fumigatus infections. This study highlights the vital role of the Oxr1 protein in pathogenic fungi and provides insights into the development of new antifungal drugs targeting ROS detoxification.
APPLIED AND ENVIRONMENTAL MICROBIOLOGY
(2021)
Article
Food Science & Technology
Bogdan Jovanovic, Nina Eiermann, Deepti Talwar, Maria Boulougouri, Tobias P. Dick, Georg Stoecklin
Summary: Arsenic exerts its toxicity on cells through the inhibition of Trx1-induced SGs, which is crucial for cell survival in response to ASN exposure. The assembly of SGs plays a significant role in the toxic properties of ASN, highlighting the importance of Trx1 in cellular response to ASN exposure.
FOOD AND CHEMICAL TOXICOLOGY
(2021)
Article
Plant Sciences
Kusum Rana, Yijuan Ding, Surinder S. Banga, Hongmei Liao, Siqi Zhao, Yang Yu, Wei Qian
Summary: Sclerotinia sclerotiorum infects host plant tissues by inducing necrosis to source nutrients needed for its establishment. The pathogen has evolved ROS scavenging mechanisms to withstand host-induced oxidative damage, and the normal expression of SsTrx1 is crucial for pathogenicity and oxidative stress tolerance of S. sclerotiorum.
MOLECULAR PLANT PATHOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Moises Rubio-Osornio, Carmen T. Gomez-De Leon, Sergio Montes, Carmen Rubio, Camilo Rios, Antonio Monroy, Jorge Morales-Montor
Summary: Parkinson's disease is characterized by oxidative stress and immune activation. Simvastatin, a cholesterol-regulating drug, can protect against atherosclerosis disease. Pretreatment with simvastatin reduced MPP+-induced damage in rats and decreased inflammation response proteins.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Jing Xu, Gang Bi, Qingya Luo, Yi Liu, Tao Liu, Lanfang Li, Qi Zeng, Qien Wang, Yufeng Wang, Jianhua Yu, Ping Yi
Summary: The study revealed that in human ovarian cancer, PHLDA1 modulates cell sensitivity to apoptosis through the endoplasmic reticulum stress response pathway, which is associated with disease stage, progression-free survival, and overall survival.
Article
Biochemistry & Molecular Biology
Hannah L. Best, Alison J. Clare, Kirstin O. McDonald, Hollie E. Wicky, Stephanie M. Hughes
Summary: Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited childhood neurodegenerative disorders characterized by neuroinflammation and alterations in the extracellular environment. This study investigated the secretome in the CLN6 variant of NCL and found significant changes that could be partially corrected with gene therapy, suggesting potential biomarkers for disease monitoring. Overall, the secretome plays a role in CLN6 pathogenesis and may serve as an in vitro model for future studies.
JOURNAL OF NEUROCHEMISTRY
(2021)
Review
Cell Biology
Marcel Klein, Guido Hermey
Summary: Evidence from genetics and cellular and animal models suggests a link between early and late neurodegenerative disorders. This review summarizes the connection between Alzheimer's disease and neuronal ceroid lipofuscinoses. Genetic studies have found overlapping mutations between clinically diagnosed Alzheimer's and neuronal ceroid lipofuscinoses. Dysfunctions in intracellular trafficking mechanisms and the autophagy-endolysosome system are believed to be shared cytopathological processes. Understanding these common mechanisms is important for finding therapeutic targets and tailored treatments.
NEURAL REGENERATION RESEARCH
(2023)
Article
Endocrinology & Metabolism
Joanna Karolina Purzycka-Olewiecka, Katarzyna Hetmanczyk-Sawicka, Tomasz Kmiec, Dominika Szczesniak, Joanna Trubicka, Maciej Krawczynski, Maciej Pronicki, Agnieszka Lugowska
Summary: Ceroid lipofuscinosis type 3 (CLN3) is a neurodegenerative metabolic disease characterized by progressive visual loss, epilepsy, and dementia. Lipofuscin deposits and vacuolized lymphocytes are indicative of CLN3 diagnosis. The most common cause of CLN3 is a large deletion of 1.02 kb in exons 7 and 8 of the CLN3 gene. This study reports 4 patients from 2 families who experienced visual deterioration as the initial clinical sign, followed by neurological symptoms. All patients had the 1.02 kb deletion in the CLN3 gene detected. The presence of abnormal structures and the economic feasibility of the 1.02 kb deletion test support its use in diagnosing CLN3.
METABOLIC BRAIN DISEASE
(2023)
Article
Plant Sciences
Jesus Pascual, Moona Rahikainen, Martina Angeleri, Sara Alegre, Richard Gossens, Alexey Shapiguzov, Arttu Heinonen, Andrea Trotta, Guido Durian, Zsofia Winter, Jari Sinkkonen, Jaakko Kangasjarvi, James Whelan, Saijaliisa Kangasjarvi
Summary: ACO3 and its phosphorylation at Ser91 play a key role in stress regulation induced by mitochondrial dysfunction. The abundance and phosphorylation of ACO3 increase under stress conditions, requiring signaling through ANAC017.
Article
Psychology, Developmental
Mattias Krantz, Emma Malm, Niklas Darin, Kalliopi Sofou, Antri Savvidou, Colin Reilly, Petra Bostrom
Summary: CLN3 disease has a significant impact on the family system, including parental feelings of loss, impact on family relationships, and lack of understanding in the healthcare and social insurance systems. The concept of family resilience may be helpful in understanding the experiences of families affected by pediatric neurodegenerative conditions.
CHILD CARE HEALTH AND DEVELOPMENT
(2022)
Article
Biochemistry & Molecular Biology
Liam Baird, Masayuki Yamamoto
Summary: In human cancer, abnormal activation of the NRF2 pathway can allow cancer cells to evade immune surveillance and develop into malignant tumors by reducing antigen presentation and activating signals for NK cells, which inhibits the involvement of immune effector cells.
Article
Biochemistry & Molecular Biology
Cristina Sanchez-de-Diego, Leonardo Pedrazza, Carolina Pimenta-Lopes, Arturo Martinez-Martinez, Norma Dahdah, Jose Antonio Valer, Pablo Garcia-Roves, Jose Luis Rosa, Francesc Ventura
Summary: The study unveils that increased NRF2 activity during osteocytogenesis leads to elevated ROS levels, promoting the expression of osteocyte-specific genes. Ablation of Nfe2l2 can result in osteopenia and mitigate bone loss induced by ovariectomy.
Article
Genetics & Heredity
Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang-Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan
Summary: Mutations in CLN3 gene can lead to Batten disease, as well as non-syndromic CLN3 disease characterized by retinal-specific degeneration. The study demonstrates the presence of novel CLN3 transcripts in human retinal tissues and highlights the importance of gene correction in preventing disease manifestations associated with CLN3 deficiency.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Kiterie M. E. Faller, Rodrigo Gutierrez-Quintana, Alamin Mohammed, Ahad A. Rahim, Richard I. Tuxworth, Kim Wager, Michael Bond
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2015)
Article
Developmental Biology
Marie-Sophie Cate, Sangeetha Gajendra, Samantha Alsbury, Thomas Raabe, Guy Tear, Kevin J. Mitchell
Review
Biochemistry & Molecular Biology
Elena Seranova, Kyle J. Connolly, Malgorzata Zatyka, Tatiana R. Rosenstock, Timothy Barrett, Richard I. Tuxworth, Sovan Sarkar
SIGNALLING MECHANISMS IN AUTOPHAGY
(2017)
Article
Neurosciences
Alamin Mohammed, Megan B. O'Hare, Alice Warley, Guy Tear, Richard I. Tuxworth
NEUROBIOLOGY OF DISEASE
(2017)
Article
Multidisciplinary Sciences
Olivia Bibollet-Bahena, Tatsuya Okafuji, Karsten Hokamp, Guy Tear, Kevin J. Mitchell
Article
Developmental Biology
Nick Lowe, Johanna S. Rees, John Roote, Ed Ryder, Irina M. Armean, Glynnis Johnson, Emma Drummond, Helen Spriggs, Jenny Drummond, Jose P. Magbanua, Huw Naylor, Benedicte Sanson, Rebecca Bastock, Sven Huelsmann, Vitor Trovisco, Matthias Landgraf, Seymour Knowles-Barley, J. Douglas Armstrong, Helen White-Cooper, Celia Hansen, Roger G. Phillips, Kathryn S. Lilley, Steven Russell, Daniel St Johnston
Article
Biology
Giulia Povellato, Richard I. Tuxworth, Diane P. Hanger, Guy Tear
Article
Genetics & Heredity
Matthew J. Taylor, Richard Tuxworth
JOURNAL OF NEUROGENETICS
(2019)
Article
Biochemistry & Molecular Biology
Robert J. Huber, Stephanie M. Hughes, Wenfei Liu, Alan Morgan, Richard Tuxworth, Claire Russell
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2020)
Article
Multidisciplinary Sciences
Kyle J. Connolly, Megan B. O'Hare, Alamin Mohammed, Katelyn M. Aitchison, Niki C. Anthoney, Matthew J. Taylor, Bryan A. Stewart, Richard I. Tuxworth, Guy Tear
SCIENTIFIC REPORTS
(2019)
Article
Oncology
Zubair Ahmed, Richard I. Tuxworth
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Matthew J. Taylor, Adam M. Thompson, Sharif Alhajlah, Richard Tuxworth, Zubair Ahmed
Summary: DNA double-strand breaks play a crucial role in neurological conditions, and targeting the ATM-Chk2 pathway can slow down neural decline and promote neuroprotection by inhibiting nonhomologous end-joining.
Article
Clinical Neurology
Richard Tuxworth, Matthew J. Taylor, Ane Martin Anduaga, Alaa Hussien-Ali, Sotiroula Chatzimatthaiou, Joanne Longland, Adam M. Thompson, Sharif Almutiri, Pavlos Alifragis, Charalambos P. Kyriacou, Boris Kysela, Zubair Ahmed
BRAIN COMMUNICATIONS
(2019)