Results 101 to 110 of about 6,311 (212)

A United States-based patient-reported adult polyglucosan body disease registry: initial results

Therapeutic Advances in Rare Disease
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene.
Jacy Sparks, Francesco Michelassi, John L. P. Thompson, Richard Buchsbaum, Natacha Pires, Janet T. DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano   +9 more
doaj   +1 more source

Identification of Thermotoga maritima MSB8 GH57 α-amylase AmyC as a glycogen-branching enzyme with high hydrolytic activity. [PDF]

Appl Microbiol Biotechnol, 2019
Zhang X, Leemhuis H, Janeček Š, Martinovičová M, Pijning T, van der Maarel MJEC.   +5 more
europepmc   +1 more source

The Polymers of Life: Exploring Cellular Function Through Polymer Concepts

Advanced Science, Volume 13, Issue 33, 15 June 2026.
Biomolecular phase separation reveals that a hidden layer of cellular organization is governed by the principles of polymer science. This review bridges polymer physics and cell biology, offering a primer on fundamental concepts, proposing a framework for interrogating cellular function, and synthesizing biophysical methods for decoding macromolecular ...
Mark Chen, Ashutosh Chilkoti
wiley   +1 more source

WTAP/IGF2BP3-mediated GBE1 expression accelerates the proliferation and enhances stemness in pancreatic cancer cells via upregulating c-Myc

Cellular & Molecular Biology Letters
Background Pancreatic cancer (PC) is one of the most malignant cancers with highly aggressiveness and poor prognosis. N6-methyladenosine (m6A) have been indicated to be involved in PC development.
Weiwei Jin, Yanru Yao, Yuhan Fu, Xiangxiang Lei, Wen Fu, Qiliang Lu, Xiangmin Tong, Qiuran Xu, Wei Su, Xiaoge Hu   +9 more
doaj   +1 more source

The myth of the metabolic baseline: sleep–wake cycles undermine a foundational assumption in organismal biology

Biological Reviews, Volume 101, Issue 3, Page 1491-1510, June 2026.
ABSTRACT Basal and standard metabolic rate (BMR and SMR) are cornerstones of physiological ecology and are assumed to be relatively fixed intrinsic properties of organisms that represent the minimum energy required to sustain life. However, this assumption is conceptually flawed. Many core maintenance processes underlying SMR are temporally partitioned
Helena Norman, Daphne Cortese, Amelia Munson, Jan Lindström, Shaun S. Killen   +4 more
wiley   +1 more source

Aspartame Increases the Risk of Pancreatic Ductal Adenocarcinoma

eFood, Volume 7, Issue 3, June 2026.
Aspartame (APM) is a widely used artificial sweetener associated with various health concerns, including potential links to diabetes, cardiovascular diseases, and an increased risk of cancer. A comprehensive approach incorporating data mining, machine learning, network toxicology, molecular docking, molecular dynamics simulations, and clinical sample ...
Jumin Xie, Wei Fang, Zean Song, Zhang Yu, Ying Zhu, Shaoping Liu   +5 more
wiley   +1 more source

Nutritional, phytochemical, and potential health benefits of Monostroma spp.: A systematic review

Food Biomacromolecules, Volume 3, Issue 2, Page 252-272, June 2026.
Abstract Monostroma spp., belonging to the green seaweed, has been known to be health‐promoting food items as prophylactic agents worldwide. It has shown wide arrays of bioactivities for the prevention and treatment of various diseases. A total of 47 articles were selected to review following the Preferred Reporting Items for Systematic reviews and ...
Md Shariful Islam
wiley   +1 more source

Glycogen storage disease due to glycogen branching enzyme deficiency [PDF]

, 2020
openaire   +1 more source

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. [PDF]

Hum Mol Genet, 2015
Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW.   +14 more
europepmc   +1 more source

Current Topics of Progressive Cardiac Conduction Disease

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa, Akiko Seki, Naomasa Makita, Jean‐Jacques Schott, Arthur A. M. Wilde   +7 more
wiley   +1 more source