Results 71 to 80 of about 1,366 (166)

Single‐cell atlas of neuroglial dynamics in SNCA‐A53T Parkinson's disease mouse model

Animal Models and Experimental Medicine, Volume 9, Issue 8, Page 1613-1632, August 2026.
We performed single‐cell RNA sequencing of midbrain and striatal tissues from SNCA‐A53T Parkinson's disease (PD) mice, revealing glia‐enriched PD‐risk gene signatures and disease‐specific subpopulations. Transcriptional dysregulation of key TFs (e.g., Rorb, Foxc1) and enhanced neuroinflammatory signaling (SEMA, CCL, MIF) were identified.
Binqing Qin, Zichu Fu, Xuanxuan Zou, Senmao Chai, Jingjing Weng, Puqing Wang, Xiaodong Sun, Ming Sang   +7 more
wiley   +1 more source

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Molecular Genetics and Metabolism Reports, 2021
Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins.
Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard   +10 more
doaj   +1 more source

Comparison of Dried Blood Spot Sampling Methods for RNA‐Based Biomarker Measurement in Anti‐Doping

Drug Testing and Analysis, Volume 18, Issue 8, Page 959-966, August 2026.
This study demonstrates that RNA‐based biomarkers of erythropoiesis, ALAS2 and CA1, can be reliably quantified across commonly used DBS sampling matrices, including venous and capillary blood spotted on cellulose cards and the Tasso‐M20 device. ABSTRACT Dried blood spot (DBS) sampling offers logistical advantages, but it remains unexplored whether ...
Jacob Bejder, Corentin Schlechten, Claudia Mumenthaler, Olivier Salamin, Tiia Kuuranne, Thomas Christian Bonne, Jonathan Graae, Henrik Sørensen, Nikolai B. Nordsborg, Nicolas Leuenberger   +9 more
wiley   +1 more source

High‐Carbohydrate Diet Enhances Peripheral Nerve Regeneration via Hemoglobin Upregulation in Schwann Cells

Food Frontiers, Volume 7, Issue 4, July 2026.
A short‐term high‐carbohydrate diet enhances peripheral nerve regeneration more effectively than high‐protein or high‐fat diets by upregulating hemoglobin genes in Schwann cells. Increased hemoglobin promotes Schwann cell proliferation and migration, facilitating nerve repair.
Shiying Li, Dong Liu, Lin Yu, Yuanyuan Chen, Fuqian Zhang, Xuchao Yan, Yang Qian, Mingwen Zhang, Tianling Song, Jing Zhang, Guifang Wang, Xin Wang, Chunhong Xue, Chen Chen, Guowei Le, Caiping Wang, Dandan Chu   +16 more
wiley   +1 more source

Multi-omics analysis unveils the role of lipid metabolism-derived acylation modifications in POAG and its potential implications

Therapeutic Advances in Ophthalmology
Objective: Primary open-angle glaucoma (POAG) is a leading cause of vision loss, with lipid metabolism implicated in its pathogenesis. Our study explores lipid metabolism-derived acylation modifications in POAG using GEO, GWAS, and PubChem databases ...
Sijie Zhao, Che Xu, Qing Dai, Ziqing Gao, Jian Chen   +4 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

C-Terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

, 2008
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT
Deybach, Jean-Charles, Badminton, Michael N., Marsden, Joanne T., Ma, Yun, Grandchamp, Bernard, Corrigall, Anne V., Whatley, Sharon D., Gouya, Laurent, Mieli-Vergani, Giorgina, Holme, Alexander, Meissner, Peter N., Parker, Michelle, Ducamp, Sarah, Anstey, Alexander V., Badminton, Michael Norman, Beaumont, Carole, Holme, S. Alexander, Puy, Hervé, Anstey, Alexander Vincent, Elder, George H., Hift, Richard J.   +20 more
core   +1 more source

Endothelial Cell-Selective Adhesion Molecule Contributes to the Development of Definitive Hematopoiesis in the Fetal Liver

Stem Cell Reports, 2019
Summary: Endothelial cell-selective adhesion molecule (ESAM) is a lifelong marker of hematopoietic stem cells (HSCs). Although we previously elucidated the functional importance of ESAM in HSCs in stress-induced hematopoiesis in adults, it is unclear how
Tomoaki Ueda, Takafumi Yokota, Daisuke Okuzaki, Yoshihiro Uno, Tomoji Mashimo, Yoshiaki Kubota, Takao Sudo, Tomohiko Ishibashi, Yasuhiro Shingai, Yukiko Doi, Takayuki Ozawa, Ritsuko Nakai, Akira Tanimura, Michiko Ichii, Sachiko Ezoe, Hirohiko Shibayama, Kenji Oritani, Yuzuru Kanakura   +17 more
doaj   +1 more source

Integrated bioinformatics analysis reveals marker genes and immune infiltration for pulmonary arterial hypertension

Scientific Reports, 2022
Pulmonary arterial hypertension (PAH) is a chronic cardiopulmonary syndrome with high pulmonary vascular load and eventually causing RV heart failure even death. However, the mechanism of pulmonary hypertension remains unclear.
Shengxin Tang, Yue Liu, Bin Liu
doaj   +1 more source

Hypoxic up-regulation of erythroid 5-aminolevulinate synthase [PDF]

, 2003
The erythroid-specific isoform of 5-aminolevulinate synthase (ALAS2) catalyzes the rate-limiting step in heme biosynthesis. The hypoxia-inducible factor-1 (HIF-1) transcriptionally up-regulates erythropoietin, transferrin, and transferrin receptor ...
Kramer, M F, Wenger, Roland H., Ferreira, Gloria C., Hofer, Thomas, Gassmann, Max, Ferreira, G C, Kramer, Marianne F., Hofer, T, Wenger, R H, Gassmann, M, Kramer MF, Wenger RH, Gassmann M, Hofer T, Ferreira GC, Kramer, Marianne F, Wenger, Roland H.; https://orcid.org/, Ferreira, Gloria C   +17 more
core   +1 more source