Results 221 to 230 of about 286,880 (314)

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Journal of Medical Genetics, 1996
I. Redonnet-Vernhet, J. K. P. Amstel, R. Jansen, R. Wevers, R. Salvayre, T. Levade   +5 more
semanticscholar   +1 more source

Hyperglycemia Leads to BMSC Impaired Osteogenesis, Enhanced Adipogenesis, and Altered Metabolism

Journal of Cellular Biochemistry, Volume 127, Issue 4, April 2026.
ABSTRACT Diabetes is a major risk factor for osteoporosis, which negatively impacts bone health, but the mechanisms underlying the effects of hyperglycemia on bone marrow mesenchymal/stromal cells (BMSC) are not fully understood. This study investigated how high glucose levels influence BMSC differentiation, proliferation, viability, and metabolism ...
Suzanna Shirazi, Ezaldeen Esawi, Zeyad D. Nassar, Stan Gronthos, Dimitrios Cakouros   +4 more
wiley   +1 more source

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease. [PDF]

PLoS One, 2016
Citro V, Peña-García J, den-Haan H, Pérez-Sánchez H, Del Prete R, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.   +9 more
europepmc   +1 more source

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.

JIMD Reports, 2013
M. Niemann, A. Rolfs, A. Giese, H. Mascher, F. Breunig, G. Ertl, C. Wanner, F. Weidemann   +7 more
semanticscholar   +1 more source

Tooth Decay Promotes Senescence in Dental Pulp Stem Cells, Modifying Their Biological and Proteomic Profiles

Journal of Cellular Physiology, Volume 241, Issue 4, April 2026.
ABSTRACT Dental caries is a prevalent oral health problem that significantly reduces an individual's quality of life; although, it can be effectively managed through restorative treatments. Even in cases where the caries does not reach the pulp, released microbial products from the lesion can still penetrate the pulp chamber, potentially inducing ...
Sebahat Melike Durukan, Mustafa Burak Acar, Banu Çiçek Tez, Ahmet Şimşek, Sura Hilal Ahmed Al‐Sammarrie, Zeynep Günaydın, Melis Güzel, Başak Bilge Süer, Şerife Ayaz Güner, Hüseyin Güner, Nicola Alessio, Kemal Erdem Başaran, Zeynep Burçin Gönen, Servet Özcan   +13 more
wiley   +1 more source

Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector.

Proceedings of the National Academy of Sciences of the United States of America, 1996
J. Medin, M. Tudor, R. Simovitch, J. Quirk, S. Jacobson, G. Murray, R. Brady   +6 more
semanticscholar   +1 more source

The Transcription Factors Six3 and Six6 in Neuromedin‐S Neurons Differentially Affect Circadian Rhythms

Journal of Neuroscience Research, Volume 104, Issue 4, April 2026.
Six3 and Six6 are necessary for the development of the suprachiasmatic nucleus (SCN), and both remain expressed after SCN neurogenesis. We implemented a Neuromedin‐S (NMS)‐cre mouse model to conditionally knockout either Six3 or Six6 from the SCN to determine the post‐proliferative roles of these transcription factors in hypothalamic and circadian ...
Brooke M. Van Loh, Geneva A. Dunn, Lauren E. Chun, Meera M. Patel, Nay Chi P. Naing, Duong Nguyen, Alexandra M. Yaw, Michael R. Gorman, Jessica Cassin, Pamela L. Mellon, Hanne M. Hoffmann, Karen J. Tonsfeldt   +11 more
wiley   +1 more source

Murine Progeria Model Exhibits Delayed Fracture Healing With Senescent Phenotype and Dysregulated Immune Response

Journal of Orthopaedic Research, Volume 44, Issue 4, April 2026.
Graphical Abstract This study explores whether a murine model of progeria has a delayed fracture healing phenotype that resembles chronological aging but with an accelerated timeline that could make it a valuable research tool. ABSTRACT An estimated 189 million bone fractures occurred in 2019 making it one of the most globally prevalent injuries ...
Victoria R. Duke, Marc J. Philippon Jr., Dane R. G. Lind, Herbert Kasler, Kohei Yamaura, Matt Huard, Molly Czachor, Justin Hollenbeck, Justin Brown, Alex Garcia, Jacob D. Matityahu, Naomasa Fukase, Ralph S. Marcucio, Anna‐Laura Nelson, William S. Hambright, Dustin M. Snapper, Johnny Huard, Chelsea S. Bahney   +17 more
wiley   +1 more source

Loganin, an Iridoid Glycoside, Alleviates Paclitaxel‐Induced Skeletal Muscle Toxicity by Enhancing Mitochondrial Function, Boosting Antioxidant Defenses, and Reducing Cellular Senescence

The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 4, April 2026.
ABSTRACT Mitochondrial dysfunction and energy imbalance caused by chemotherapy are key contributors to skeletal muscle atrophy, which severely impacts the quality of life in cancer patients. Paclitaxel, a commonly used chemotherapeutic agent, is known to promote muscle wasting and cellular senescence, largely by impairing mitochondrial function.
Yu‐Fan Chuang, Cai‐Rong Wu, Wan‐Hsuan Chang, Ying‐Jung Su, Hung‐Te Hsu, Fan‐Li Lin, Yi‐Ching Lo   +6 more
wiley   +1 more source

Production in yeast of alpha-galactosidase A, a lysosomal enzyme applicable to enzyme replacement therapy for Fabry disease.

Glycobiology, 2002
Y. Chiba, H. Sakuraba, M. Kotani, R. Kase, Kazuo Kobayashi, M. Takeuchi, S. Ogasawara, Y. Maruyama, T. Nakajima, Yuki Takaoka, Y. Jigami   +10 more
semanticscholar   +1 more source