Article
Fisheries
Guang-Xin Liu, Yu Tian, Chang-Hong Cheng, Hong-Ling Ma, Si-Gang Fan, Yi-Qin Deng, Juan Feng, Jian-Jun Jiang, Zhi-Xun Guo
Summary: In this study, a ATF6 gene from the mud crab (Sp-ATF6) was cloned and identified. Sp-ATF6 was widely expressed in different tissues and its expression was induced by hydrogen peroxide and V. parahaemolyticus challenge. Knocking down Sp-ATF6 reduced the expression of antioxidant-related genes and heat shock proteins after V. parahaemolyticus infection.
FISH & SHELLFISH IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Sanaz Dastghaib, P. Sravan Kumar, Sajjad Aftabi, Gautam Damera, Azadeh Dalvand, Adel Sepanjnia, Mohammad Kiumarsi, Mohamad-Reza Aghanoori, Sukhwinder Singh Sohal, Sudharsana R. Ande, Javad Alizadeh, Pooneh Mokarram, Saeid Ghavami, Pawan Sharma, Amir A. Zeki
Summary: Lung cells are exposed to internal and external stressors, leading to disruption of protein homeostasis and activation of the UPR. Dysregulation of the UPR is associated with disease development and various human conditions. Compounds targeting the UPR pathway show potential for future therapeutic interventions.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Pushank Nagar, Prajjwal Sharma, Rishika Dhapola, Sneha Kumari, Bikash Medhi, Dibbanti HarikrishnaReddy
Summary: Alzheimer's disease (AD) is a progressive neurodegenerative condition characterized by protein misfolding and prolonged cellular stress, particularly in the endoplasmic reticulum (ER). The ER plays a crucial role in protein folding, quality control, cholesterol production, and calcium balance. ER stress, triggered by protein misfolding, leads to the activation of the unfolded protein response (UPR) and is linked to various pathological processes in AD. Understanding the role of ER stress and UPR in AD pathogenesis can potentially lead to effective therapeutic strategies.
Article
Medicine, Research & Experimental
Andong Shao, Qin Xu, Chang Won Kang, Christopher F. Cain, Avery C. Lee, Chih-Hang Anthony Tang, Juan R. Del Valle, Chih-Chi Andrew Hu
Summary: Activation of the IRE-1/XBP-1s pathway promotes tumor progression. TC-D-F07, a novel prodrug, inhibits IRE-1 and induces ER stress in tumor cells, leading to apoptosis. TC-D-F07 exhibits higher sensitivity to intracellular thiols in tumor cells, resulting in sustained inhibition of IRE-1 and deprivation of XBP-1s.
MOLECULAR PHARMACEUTICS
(2022)
Article
Neurosciences
Avital Horwitz, Ruth Birk
Summary: Bardet-Biedl syndrome (BBS) is an autosomal recessive syndrome characterized by retinal dystrophy, cognitive impairment, and obesity. Our study focused on examining the role of BBS4 in neuronal development under normal and ER stress conditions. BBS4 depletion in neuronal cells leads to reduced sensitivity to ER stress during differentiation, partly due to the failure in translocation of ER-transcription factors (TF) sXBP-1 and ATF6 alpha p50 to the nucleus.
MOLECULAR NEUROBIOLOGY
(2021)
Review
Immunology
Wolfgang Vivas, Sebastian Weis
Summary: Pathogens and their toxic byproducts can cause tissue damage in infected hosts, triggering stress responses such as the unfolded protein response (UPR) to limit pathogenesis. However, prolonged or excessive activation of UPR may have detrimental effects including cell death.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Noel Verjan Garcia, Kyung U. Hong, Nobuyuki Matoba
Summary: The endoplasmic reticulum (ER) plays a vital role in cell homeostasis and disruptions to its functions can lead to diseases. Dysregulated ER stress and UPR are linked to various human diseases, including inflammatory bowel disease (IBD). A recent study has shown that EPICERTIN can induce a protective UPR in colon epithelial cells, promoting mucosal healing in IBD models.
Review
Microbiology
Yuki Ishiwata-Kimata, Yukio Kimata
Summary: This article reviews the canonical and up-to-date insights regarding yeast UPR, mainly focusing on the functions and regulation of Ire1 and HAC1.
Article
Biology
Mateusz Kowalczyk, Edward Kowalczyk, Pawel Kwiatkowski, Lukasz Lopusiewicz, Monika Talarowska, Monika Sienkiewicz
Summary: Despite numerous scientific studies on depression, there is still no clear understanding of the causes and mechanisms of depression development. Recent research has found a strong relationship between depression and endoplasmic reticulum (ER) stress, with continuous activation of stress response pathways in patients. Therefore, recommended drugs should aim at reducing ER stress while alleviating symptoms of depression.ongoing search for drugs that can effectively reduce ER stress and relieve depression symptoms.
Article
Biotechnology & Applied Microbiology
Phuong Thi Mai Nguyen, Yuki Ishiwata-Kimata, Yukio Kimata
Summary: The unfolded protein response (UPR) is a cellular response to deal with the accumulation of unfolded proteins in the endoplasmic reticulum (ER). This study demonstrates that constitutive induction of UPR in nonstress conditions leads to growth retardation, which can be partially rescued by weak ER stress. Additionally, the stable expression of ER-localized GFP in UPR-induced cells enhances UPR activity and promotes the production of triglycerides and heterogenous carotenoids. These findings have implications for metabolic engineering and the production of valuable lipidic molecules.
APPLIED AND ENVIRONMENTAL MICROBIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Anja Batel, Mirjana Polovic, Mateo Glumac, Oliver Suman, Stipislav Jadrijevic, Bernarda Lozic, Marija Petrovic, Bobana Samardzija, Nicholas J. Bradshaw, Karlo Skube, Vinko Palada, Mislav Acman, Ivana Marinovic Terzic
Summary: This study reveals the role of the SPRTN gene in hepatocellular carcinoma (HCC) and its association with endoplasmic reticulum (ER) stress, providing new insights into the pathogenesis of HCC.
CANCER GENE THERAPY
(2023)
Article
Biochemistry & Molecular Biology
Rina Carrillo, David A. Christopher
Summary: A unique biosensor-reporter system was developed to measure UPR activation in plants under stressful environments, demonstrating its utility in Arabidopsis leaf protoplasts for visualization and quantification using confocal microscopy.
PLANT SIGNALING & BEHAVIOR
(2022)
Review
Pharmacology & Pharmacy
Dan Qiao, Ziwei Zhang, Yali Zhang, Qian Chen, Yujun Chen, Yingjue Tang, Xiong Sun, Zhipeng Tang, Yancheng Dai
Summary: Ulcerative colitis is a chronic inflammatory disease, and endoplasmic reticular stress-induced autophagy plays a crucial role in its pathogenesis. Dysregulated autophagy can lead to inflammation and disruption of the intestinal barrier, increasing the risk of colonic diseases.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Shreya Das, Arunima Mondal, Chandrani Dey, Santanu Chakraborty, Rudranil Bhowmik, Sanmoy Karmakar, Arunima Sengupta
Summary: In the mammalian heart, fetal cardiomyocytes proliferate prior to birth and adult cardiomyocytes re-enter the cell cycle postinjury to promote cardiac regeneration. Disruption of the endoplasmic reticulum (ER) machinery leads to ER stress, which has a fine balance between protective and proapoptotic responses. T-box transcription factor 20 (Tbx20) is upregulated in ER stress and promotes cardiomyocyte proliferation and limits apoptosis.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2023)
Review
Plant Sciences
Sofia Reyes-Impellizzeri, Adrian A. Moreno
Summary: This review focuses on the impact of alterations in components of ERQC, ERAD, and UPR on plant responses to abiotic stresses. Evidence shows a clear connection between ERAD and UPR mechanisms, but the connection of ERQC components with these processes or their possible client proteins is lacking. Proteomics approaches are suggested to uncover the identity of these proteins and their connection to ER proteostasis.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Oncology
Ana Janic, Ajoy Vincent, Jennifer Stinson, Helen Dimaras
Summary: This study aimed to uncover the treatment outcomes that retinoblastoma survivors and their parents value, in order to inform the development of a future measure. Through focus groups and individual interviews, important themes were identified, including the definition of treatment success, acceptance and challenges of enucleation, treatment outcomes to measure, and the need for outcome reporting. These findings provide valuable insights to improve outcomes assessment for retinoblastoma.
JCO ONCOLOGY PRACTICE
(2022)
Article
Genetics & Heredity
Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B. Haack, Nicole Weisschuh, Katarina Stingl, Eberhart Zrenner
Summary: This study characterizes the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. The study found heterogeneity in the phenotype and genotype of the disease, with no apparent correlation.
Article
Pathology
Eun-Jin Lee, Monica S. Diaz-Aguilar, Hyejung Min, Jihee Choi, Diego A. Valdez Duran, Julia M. Grandjean, R. Luke Wiseman, Heike Kroeger, Jonathan H. Linyz
Summary: This study analyzed the transcriptomes of retinal organoids from ACHM patients with ATF6 variants in order to investigate the effects on different retinal cell types. The results revealed dysregulation in mitochondrial gene expression and disrupted mitochondrial morphology in ACHM retinal organoids, indicating previously unknown mitochondrial defects in the retina. Additionally, downregulation of cone genes and upregulation of Muller glia genes were observed, with no significant effects on other retinal cells.
AMERICAN JOURNAL OF PATHOLOGY
(2023)
Article
Ophthalmology
Austin Pereira, Birgit Ertl-Wagner, Anupreet Tumber, Ajoy Vincent, Michael J. Wan
Summary: A rare case of bony overgrowth causing bilateral compressive optic neuropathy and outer retinopathy in a pediatric patient due to isolated vitamin A deficiency. Improvement in outer retinal changes was observed following vitamin A supplementation, but no functional improvement was achieved due to severe optic atrophy.
DOCUMENTA OPHTHALMOLOGICA
(2023)
Article
Biochemistry & Molecular Biology
Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. B. Haack, Saskia Biskup, Susanne Kohl, Laura Kuehlewein, Daniele Dell'Orco, Nicole Weisschuh
Summary: This study analyzed clinical heterogeneity and characterized the underlying biallelic variants in TULP1 in 17 patients. The majority of patients exhibited severe rod-driven inherited retinal degeneration, while a fraction of the patients had cone-driven disease. The findings support the hypothesis that TULP1 variants lead to misfolding and trigger unfolded protein response, resulting in photoreceptor death.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biotechnology & Applied Microbiology
Anna Skorczyk-Werner, Anna Sowinska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Maciej Robert Krawczynski
Summary: This study reports the molecular basis of Leber congenital amaurosis in 27 Polish families, identifying 28 potentially pathogenic variants, including 11 novel ones. The study expands the understanding of genetic mutations in Leber congenital amaurosis and highlights the most frequent genes and variants in the Polish population.
JOURNAL OF APPLIED GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Goonho Park, Ke Xu, Leon Chea, Kyle Kim, Lance Safarta, Keon-Hyoung Song, Jian Wu, Soyoung Park, Hyejung Min, Nobuhiko Hiramatsu, Jaeseok Han, Jonathan H. Lin
Summary: Tauopathies are neurodegenerative diseases characterized by the aggregation of misfolded tau protein in the nervous system. A genetic risk factor for tauopathies, PERK, was found to be involved in regulating tau aggregation. Activating PERK prevented tau aggregation, while inhibiting PERK exacerbated tau aggregation in cell culture models. Reduced PERK signaling was found to be associated with increased tau neuropathology in patient brain tissues. These findings suggest that PERK activity protects against tau pathology and identify PERK signaling augmentation as a potential therapeutic strategy for tauopathies.
JOURNAL OF BIOLOGICAL CHEMISTRY
(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)
Review
Ophthalmology
Christina Zeitz, Jerome E. Roger, Isabelle Audo, Christelle Michiels, Nuria Sanchez-Farias, Juliette Varin, Helen Frederiksen, Baptiste Wilmet, Jacques Callebert, Marie-Laure Gimenez, Nassima Bouzidi, Frederic Blond, Xavier Guilllonneau, Stephane Fouquet, Thierry Leveillard, Vasily Smirnov, Ajoy Vincent, Elise Heon, Jose-Alain Sahela, Barbara Kloeckener-Gruissemi, Florian Sennlaub, Catherine W. Morgansj, Robert M. Duvoisinj, Andrei V. Tkatchenko, Serge Picaud
Summary: Myopia is a common eye disorder caused by genetic and environmental factors. High myopia is often associated with rare inherited retinal disorders. Genes involved in myopia are related to various biological processes, including eye development, matrix organization, visual perception, circadian rhythms, and retinal signaling. Animal models mimicking myopia can help identify candidate genes implicated in human myopia. Complete congenital stationary night blindness represents an interesting model for studying myopia and retinal signaling defects. Transcriptome analysis in mouse models of cCSNB identified new candidate genes for myopia. Integration of transcriptomic data and genome-wide association studies provides insights into the potential mechanisms underlying myopia development in cCSNB subjects. These findings have implications for the development of pharmacological therapies for myopia.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
Article
Genetics & Heredity
Kavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, Ajoy Vincent, Chris A. A. Andrews, Gabrielle D. D. Lacy, Rafid Farjo, Karissa Kao, Krystal Kao, Gislin Dagnelie, David C. C. Musch, K. Thiran Jayasundera, Elise Heon
Summary: This study aimed to determine the validity of the Michigan Retinal Degeneration Questionnaire (MRDQ) and Michigan Vision-Related Anxiety Questionnaire (MVAQ) in adolescent patients with inherited retinal diseases (IRDs). The results showed that the MRDQ and MVAQ accurately detected the impact of IRD on daily activities in adolescents, and demonstrated validity and reliability for use in this patient population.
OPHTHALMIC GENETICS
(2023)
Article
Genetics & Heredity
Mette Kjobaek Gundestrup Andersen, Mette Bertelsen, Karen Gronskov, Susanne Kohl, Line Kessel
Summary: Achromatopsia is a rare congenital condition characterized by cone photoreceptor dysfunction, resulting in color blindness and vision problems. This study aimed to investigate the course of the disease and potential clinical differences between different genotypes. The research included a large cohort of patients with long-term follow-up and identified disease-causing variants in several known achromatopsia genes. The findings suggest that achromatopsia is primarily a stationary condition in terms of visual acuity, but there may be variations in phenotype characteristics with different gene variants.
Article
Genetics & Heredity
Ajoy Vincent, Kashif Ahmed, Rowaida Hussein, Zorana Berberovic, Anupreet Tumber, Xiaochu Zhao, Berge A. Minassian
Summary: This study aimed to characterize the retinal phenotype in an Epm2a(-/-) mouse model and found significant LB deposition in the retina, which may provide a potential marker for monitoring treatment efficacy in mouse models.
Article
Medicine, General & Internal
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczynski
Summary: A study found that whole-exome sequencing (WES) can identify potential pathogenic gene variants in molecularly undiagnosed retinitis pigmentosa (RP) patients, even if previous targeted sequencing (NGS) was unable to determine the molecular etiology. By improving NGS methods and repeating high-throughput sequencing analysis, the efficiency of diagnosing RP patients has significantly increased. This study confirmed the clinical utility of re-diagnosis with WES in molecularly undiagnosed RP patients.
Editorial Material
Medicine, General & Internal
Christopher P. P. Long, Nicholas Coley, John Thorson, Jonathan H. H. Lin
Summary: Uveal melanoma is the most common primary ocular tumor in adults and has significant impact through lymphovascular metastasis. Monosomy 3 is a crucial prognostic indicator for metastasis. This study reports two cases of inconsistent results in monosomy 3 testing using fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) in uveal melanoma specimens. These cases highlight the potential benefits of each testing modality and suggest that both methods should be pursued for a comprehensive evaluation.
Article
Neurosciences
Ragini Phansalkar, Vanessa S. Goodwill, Jeffrey J. Nirschl, Chiara De Lillo, Jihee Choi, Elizabeth Spurlock, David G. Coughlin, Donald Pizzo, Christina J. Sigurdson, Annie Hiniker, Victor E. Alvarez, Ann C. Mckee, Jonathan H. Lin
Summary: This study evaluated retinal pathology in post-mortem eyes of athletes with CTE and found novel retinal TDP43 pathology in CTE retinas, suggesting a role for p-TDP43 in producing visual deficits in patients with CTE.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)