Review
Endocrinology & Metabolism
Sama Samadli, Qiaoli Zhou, Bixia Zheng, Wei Gu, Aihua Zhang
Summary: Monogenic diabetes provides simplified models to understand complex molecular processes in beta-cells and explore the roles of proteins from a single protein perspective. The identification and understanding of different types of MODY have greatly contributed to advancements in diabetes treatment and stem cell research. Functional analysis of MODY-causing proteins has enhanced our understanding of cellular processes and regulation, leading to better care for diabetes patients and potential new treatment strategies.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Helmut Hiller, Dawn E. Beachy, Joseph J. Lebowitz, Stefanie Engler, Justin R. Mason, Douglas R. Miller, Irina Kusmarteva, Laura M. Jacobsen, Amanda L. Posgai, Habibeh Khoshbouei, Richard A. Oram, Desmond A. Schatz, Andrew T. Hattersley, Bernd Bodenmiller, Mark A. Atkinson, Harry S. Nick, Clive H. Wasserfall
Summary: This study found dysregulated expression of monogenic diabetes genes in the pancreas of individuals with T1D and at risk for T1D, with some genes related to cellular stress responses. Three arms of the ISR were significantly repressed in the pancreas of autoantibody+ individuals.
Review
Biochemistry & Molecular Biology
Abhishek Sehrawat, Jayapriya Mishra, Sarabjit Singh Mastana, Umashanker Navik, Gurjit Kaur Bhatti, P. Hemachandra Reddy, Jasvinder Singh Bhatti
Summary: Autophagy is crucial for maintaining cellular homeostasis by removing damaged organelles and misfolded proteins. It plays a protective role in eliminating pathogens and generating energy. Dysregulated autophagy is associated with aging-related diseases and targeting autophagy can be a promising therapeutic strategy.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Multidisciplinary Sciences
Mercedes Viettri, Jose L. Zambrano, Romel Rosales, Gerson I. Caraballo, Ana Lorena Gutierrez-Escolano, Juan E. Ludert
Summary: The study investigated whether infection with dengue and Zika viruses triggers a Golgi stress response in vertebrate and mosquito cells, showing that these viruses induce expansion of the Golgi complex and activation of the TFE3 pathway.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Yan Chen, Jing Zhao, Xia Li, Zhiguo Xie, Gan Huang, Xiang Yan, Houde Zhou, Li Zheng, Tao Xu, Kaixin Zhou, Zhiguang Zhou
Summary: The prevalence of Maturity-onset diabetes of the young (MODY) in young adults with phenotypic type 2 diabetes (T2DM) in China was found to be 0.74%, with HNF1A, GCK, and HNF4A being the most common subtypes. Clinical characteristics played a limited role in recognizing MODY.
CHINESE MEDICAL JOURNAL
(2023)
Article
Medical Laboratory Technology
Jieying Liu, Junling Fu, Ziyan Xie, Lu Ding, Dongmei Wang, Miao Yu, Qian Zhang, Ting Xie, Xinhua Xiao
Summary: Novel serum metabolic biomarkers were identified to distinguish maturity-onset diabetes of the young (MODY) and explore its mechanism. Four significantly fluctuated metabolites were found between groups, and glycerophosphocholine was selected as a diagnostic biomarker. The combination of metabolites also showed good diagnostic value.
CLINICA CHIMICA ACTA
(2023)
Article
Nutrition & Dietetics
Sindiyan Alshaikh Mubarak, Abeer Al Otaibi, Ali Al Qarni, Ahmed Bakillah, Jahangir Iqbal
Summary: Saturated FFAs, such as palmitate, circulating in the body can cause ER stress and insulin resistance. In this study, it was found that palmitate treatment reduced insulin-mediated glucose uptake and ERK phosphorylation in Huh-7 cells, while AKT phosphorylation remained unchanged. Supplementation of oleate alleviated palmitate-induced ER stress but did not affect insulin-mediated glucose uptake or ERK phosphorylation.
Review
Health Care Sciences & Services
Hazar Younis, Se Eun Ha, Brian G. Jorgensen, Arushi Verma, Seungil Ro
Summary: Maturity-Onset Diabetes of the Young (MODY) is a rare form of diabetes characterized by early onset, autosomal dominant inheritance, and insufficient insulin secretion. 14 subtypes of MODY have been identified, but misdiagnosis often occurs due to overlapping clinical features and limited knowledge of the condition.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Endocrinology & Metabolism
Ghadir Elias-Assad, Raunak Saab, Janne Molnes, Ora Hess, Rasmi Abu-Ras, Hussein Darawshi, Pal Rasmus Njolstad, Yardena Tenenbaum-Rakover
Summary: This study evaluated the long-term outcomes of patients with maturity onset diabetes of the young, type 2 (MODY2) in the same extended family and found that fasting blood glucose and HbA1c levels increased significantly with age in MODY2 patients. Some MODY2 patients developed diabetes complications related to weight gain, requiring lifelong follow-up and medical intervention.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2021)
Article
Endocrinology & Metabolism
Nirav Florian Chhabra, Anna-Lena Amend, Aimee Bastidas-Ponce, Sibylle Sabrautzki, Marta Tarquis-Medina, Stephan Sachs, Marina Rubey, Bettina Lorenz-Depiereux, Annette Feuchtinger, Mostafa Bakhti, Heiko Lickert, Gerhard K. H. Przemeck, Martin Hrabe de Angelis
Summary: This study investigated the consequences of a point mutation in the Pdia6 gene on β-cell development and function in mice. The mutation led to hypoinsulinemia and hyperglycemia in adult mice, attributed to loss of β-cell function and identity. It was observed that mutant mice displayed reduced insulin-expressing β-cells and altered expression of key markers.
MOLECULAR METABOLISM
(2021)
Review
Biochemistry & Molecular Biology
Madalena Sousa, Teresa Rego, Jacome Bruges Armas
Summary: Research highlights the crucial role of genetics in diabetes, distinguishing monogenic diabetes from common types. Although the exact prevalence of MODY is unknown, its significance in personalized medicine and familial genetics is evident.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Plant Sciences
Navpreet Kaur, Pramod Kaitheri Kandoth
Summary: This study identified and characterized the tomato bZIP60 (SlbZIP60) and showed that it undergoes splicing in response to ER stress-inducing agent tunicamycin, as well as in certain plant tissues in a physiologically activated manner. SlbZIP60 also responds to environmental stresses, heat, and virus infection.
PLANT PHYSIOLOGY AND BIOCHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Jingyu Sun, Yajuan Su, Jiajia Chen, Duran Qin, Yaning Xu, Hang Chu, Tianfeng Lu, Jingmei Dong, Lili Qin, Weida Li
Summary: The possible role of fatty acid translocase (CD36) in the treatment of obesity has gained research interest. CD36 deficiency has complex effects on insulin signaling, depending on different nutritional stresses. This study investigated the effects of CD36 deletion on insulin signaling in C2C12 myotubes with or without palmitic acid (PA) overload. The findings suggest that CD36 is essential for insulin action maintenance and its deletion can improve insulin signaling under PA overload conditions.
Article
Endocrinology & Metabolism
Theresia Sarabhai, Lucia Mastrototaro, Sabine Kahl, Gidon J. Boenhof, Marc Jonuscheit, Pavel Bobrov, Hisayuki Katsuyama, Rainer Guthoff, Martin Wolkersdorfer, Christian Herder, Sven G. Meuth, Sven Dreyer, Michael Roden
Summary: This study aimed to examine the effects of hyperbaric oxygen therapy on whole-body glucose metabolism in individuals with type 2 diabetes. The results showed that hyperbaric oxygen therapy decreased fasting blood glucose, improved whole-body insulin sensitivity, and achieved this improvement through decreasing endoplasmic reticulum stress and increasing mitochondrial function.
Review
Cell Biology
Jesus Burillo, Patricia Marques, Beatriz Jimenez, Carlos Gonzalez-Blanco, Manuel Benito, Carlos Guillen
Summary: This review examines the main molecular mechanisms that may be involved in the connection between type 2 diabetes and neurodegenerative diseases, with a focus on inflammation, endoplasmic reticulum stress, autophagy, and mitochondrial dysfunction.
Article
Endocrinology & Metabolism
Anders Molven, Monika Ringdal, Anita M. Nordbo, Helge Raeder, Julie Stoy, Gregory M. Lipkind, Donald F. Steiner, Louis H. Philipson, Ines Bergmann, Dagfinn Aarskog, Dag E. Undlien, Geir Joner, Oddmund Sovik, Graeme I. Bell, Pal R. Njolstad
Article
Endocrinology & Metabolism
Janani Kumaraguru, Sarah E. Flanagan, Siri Atma W. Greeley, Roos Nuboer, Julie Stoy, Louis H. Philipson, Andrew T. Hattersley, Oscar Rubio-Cabezas
Article
Endocrinology & Metabolism
D. F. Steiner, S. -Y. Park, J. Stoy, L. H. Philipson, G. I. Bell
DIABETES OBESITY & METABOLISM
(2009)
Article
Endocrinology & Metabolism
Julie Stoy, Siri Atma W. Greeley, Veronica P. Paz, Honggang Ye, Ashley N. Pastore, Kinga B. Skowron, Rebecca B. Lipton, Fran R. Cogen, Graeme I. Bell, Louis H. Philipson
PEDIATRIC DIABETES
(2008)
Article
Multidisciplinary Sciences
Julie Stoy, Niels Grarup, Arne Horlyck, Liselotte Ibsen, Jorgen Rungby, Per Logstrup Poulsen, Ivan Brandslund, Cramer Christensen, Torben Hansen, Oluf Pedersen, Niels Moller, Ulla Kampmann
Article
Endocrinology & Metabolism
Alexander S. Christensen, Sofie Haedersdal, Julie Stoy, Heidi Storgaard, Ulla Kampmann, Julie L. Forman, Marta Seghieri, Jens J. Holst, Torben Hansen, Filip K. Knop, Tina Vilsboll
Article
Endocrinology & Metabolism
Mads Bisgaard Bengtsen, Julie Stoy, Nikolaj Fibiger Rittig, Thomas Schmidt Voss, Nils Erik Magnusson, Mads Vadsted Svart, Niels Jessen, Niels Moller
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Article
Endocrinology & Metabolism
Julie Stoy, Jorgen Olsen, Soo-Young Park, Soren Gregersen, Claudia U. Hjorringgaard, Graeme I. Bell
Article
Endocrinology & Metabolism
Ditte Smed Iversen, Julie Stoy, Ulla Kampmann, Thomas Schmidt Voss, Lene Ring Madsen, Niels Moller, Per Glud Ovesen
BMJ OPEN DIABETES RESEARCH & CARE
(2016)
Article
Endocrinology & Metabolism
Emma L. Edghill, Sarah E. Flanagan, Ann-Marie Patch, Chris Boustred, Andrew Parrish, Beverley Shields, Maggie H. Shepherd, Khalid Hussain, Ritika R. Kapoor, Maciej Malecki, Michael J. MacDonald, Julie Stoy, Donald F. Steiner, Louis H. Philipson, Graeme I. Bell, Andrew T. Hattersley, Sian Ellard
Article
Multidisciplinary Sciences
Julie Stoy, Emma L. Edghill, Sarah E. Flanagan, Honggang Ye, Veronica P. Paz, Anna Pluzhnikov, Jennifer E. Below, M. Geoffrey Hayes, Nancy J. Cox, Gregory M. Lipkind, Rebecca B. Lipton, Siri Atma W. Greeley, Ann-Marie Patch, Sian Ellard, Donald F. Steiner, Andrew T. Hattersley, Louis H. Philipson, Graeme I. Bell
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2007)
Article
Andrology
J Stoy, NHI Hjollund, JT Mortensen, H Burr, JP Bonde
INTERNATIONAL JOURNAL OF ANDROLOGY
(2004)
Article
Endocrinology & Metabolism
Julie Stoy, Ulla Kampmann, Annette Mengel, Nils E. Magnusson, Niels Jessen, Niels Grarup, Jorgen Rungby, Hans Stodkilde-Jorgensen, Ivan Brandslund, Cramer Christensen, Torben Hansen, Oluf Pedersen, Niels Moller
BMJ OPEN DIABETES RESEARCH & CARE
(2015)