Results 181 to 190 of about 612,233 (251)

The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi, Yoshinori Osaki, Yoshimi Nakagawa, Takafumi Miyamoto, Masaya Araki, Yuhei Mizunoe, Takaaki Matsuda, Yuki Murayama, Yoko Sugano, Hitoshi Iwasaki, Takashi Matsuzaka, Motohiro Sekiya, Hitoshi Shimano   +12 more
wiley   +1 more source

IS GLYCINE SUPPLEMENTATION USEFUL IN CREATINE TRANSPORTER DEFICIENCY? [PDF]

International Journal of Advanced Research, 2016
openaire   +1 more source

International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD)

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (LC‐FAOD) are rare inherited defects of mitochondrial β‐oxidation that impair energy generation during fasting or metabolic stress. Clinical manifestations range from neonatal hypoketotic hypoglycemia and cardiomyopathy to hepatopathy, recurrent rhabdomyolysis, and chronic myopathy.
Sarah C. Grünert, Kaustuv Bhattacharya, Daniela Karall, Mirjam Langeveld, Fran Rohr, Gepke Visser, Jerry Vockley, Aileen Kenneson, Rani H. Singh, Ute Spiekerkoetter, International LC‐FAOD Guideline Workgroup, Georgianne L. Arnold, Kiera Batten, Terry G. J. Derks, Patrick Forny, Melanie B. Gillingham, Emma Glamuzina, Anita Inwood, Monika Jörg‐Streller, Erle Kristensen, Svetlana Lajic, Alexander Laemmle, Risto Lapatto, Elena Martín‐Hernández, Diego Martinelli, Mel McSweeney, Sonia Moreira, Margot F. Mulder, Anna Nordenström, Bryony Ryder, Marit Schwantje, Ida Vanessa D. Schwartz, Arthavan Selvanathan, Serap Sivri, Maren Thiel, Pilar Quijada‐Fraile, Johan L. K. Van Hove, Yilmaz Yildiz   +37 more
wiley   +1 more source

A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study. [PDF]

Sci Rep, 2019
Molinaro A, Alessandrì MG, Putignano E, Leuzzi V, Cioni G, Baroncelli L, Pizzorusso T.   +6 more
europepmc   +1 more source

Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, Freya Hassall, James Nurse, Hugh Lemonde, R. Neil Dalton, Michael Champion   +7 more
wiley   +1 more source

Mitochondria as the Hub of Apoptosis: A Comprehensive Insight From Mitochondria to Interactions With Other Organelles

MedComm, Volume 7, Issue 9, September 2026.
Mitochondria is the hub of apoptosis in various diseases. The disruption of mitochondrial structure (including membrane rupture, cristae remodeling, and mitochondrial membrane lipid redistribution), the imbalance of mitochondrial dynamics (including fusion and fission, autophagy), the release, disruption, and mutation of mitochondria DNA, as well as ...
Rubin Tan, Jinming Zhao, Rong Wang, Yue Shi, Zaozao Chen, Yixuan Ma, Na Li, Wenqing Duan, Duo Lin, Chunxiang Zhang   +9 more
wiley   +1 more source

Restoration of Creatine Transporter Function in a Creatine Transporter Deficient Mouse Model: A Dosage Study

Creatine deficiency syndromes are inborn errors of creatine metabolism, which result in impaired synthesis and transport of creatine. Under normal physiological conditions creatine is synthesized and released into the blood stream to provide cellular energy. Creatine transporters facilitate the movement of creatine against large concentration gradients
openaire   +1 more source

Type 2 Diabetes Mellitus Modifies the Prognostic Value of LDL Particle Size in Statin‐treated Patients With Coronary Artery Disease: A Large‐scale Cohort Study

MedComm, Volume 7, Issue 9, September 2026.
The LDL‐C/ApoB ratio, a marker of LDL size, showed significant prognostic value in statin‐treated CAD patients depending on diabetes status. A higher ratio was linked to lower cardiovascular risk only in patients with type 2 diabetes, suggesting it may be a superior biomarker for risk stratification beyond conventional lipids in this high‐risk group ...
Xiaohui Bian, Jining He, Chenxi Song, Rui Zhang, Sheng Yuan, Guofeng Gao, Kefei Dou   +6 more
wiley   +1 more source

The Health Benefits of Exercise: Molecular and Cellular Mechanisms

MedComm, Volume 7, Issue 9, September 2026.
Our synthesis integrates evidence on exercise‐induced regulatory mechanisms across multiple systems (musculoskeletal, cardiovascular, nervous, metabolic and immune), cross‐system, and aging. We also discusses adaptive regulation of exercise in extreme environments, along with the prospects and challenges of multiomics and AI‐driven precision exercise ...
Peifeng Ying, Huilin Wang, Xiu Lu, Wenjuan Zhang, Zhehao Lin, Kai Wang, Shangxuan Li, Lu Chen, Mingchao Jiang, Sarkawt Hamad, Yi Wang, Jianmin Wu, Shukuan Ling   +12 more
wiley   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, Volume 74, Issue S1, Page S58-S64, September 2026.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source