Results 41 to 50 of about 1,169 (119)

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

International Journal of Neonatal Screening, 2021
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency.
Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam   +11 more
doaj   +1 more source

Plasmacytoid Dendritic Cells Exhibit High Transferrin Receptor Expression Without Iron Accumulation

European Journal of Immunology, Volume 56, Issue 6, June 2026.
• pDCs are defined by high surface TFRC expression and dynamic iron flux, distinguishing them from conventional dendritic cell subsets. • In the Iron proteome, pDC are enriched for mitochondrial heme and Fe–S proteins but have similar iron storage to cDC. • Iron chelation does not disrupt pDC type‐1 IFN production. ABSTRACT Plasmacytoid dendritic cells
Carrie Corkish, Simon O'Shaughnessy, Claire Lin, Sophia Wugk, Sarah Kenny, Linda Sinclair, Suzanne Cloonan, David Finlay   +7 more
wiley   +1 more source

Loss of BCAA catabolism enhances Rab1A-mTORC1 signaling activity and promotes tumor proliferation in NSCLC

Translational Oncology, 2023
Background: Non-small cell lung cancer (NSCLC) is a leading cause of cancer death. Branched-chain amino acid (BCAA) homeostasis is important for normal physiological metabolism.
Meiting Xue, Jiawei Xiao, Wenna Jiang, Yanhui Wang, Duo Zuo, Haohua An, Li Ren   +6 more
doaj   +1 more source

Dynamics of the Mammalian Placental Metabolome in Placentogenesis and Embryonic Development

Advanced Science, Volume 13, Issue 19, 2 April 2026.
This study identifies three metabolic stages (E8.5, E9.5–10.5, E11.5–14.5) and two transition periods (E8.5–9.5, E10.5–11.5) in mouse placental development. NAD(H) emerges as a key dynamic metabolite that enhances embryonic growth through accelerated segmentation and increased proliferation of mouse embryonic stem cell (mESC)‐induced presomitic ...
Gang Chen, Zichen Liu, Mengyi Wei, Qian Li, Liang Wu, Kunyuan Yu, Yanhong Xu, Dainan Yu, Wenwu Ma, Hongmei Wang, Ng Shyh‐Chang, Jinglei Zhai   +11 more
wiley   +1 more source

Molecular genetics of maple syrup urine disease in the Turkish population

The Turkish Journal of Pediatrics, 2009
In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol, Oliver Feyen, Udo Wendel   +7 more
doaj  

Aerial ammonia exposure induces the perturbation of the interorgan ammonia disposal and branched-chain amino acid catabolism in growing pigs

Animal Nutrition, 2021
Aerial ammonia exposure leads to tissue damage and metabolic dysfunction. However, it is unclear how different organs are coordinated to defend against aerial ammonia exposure. Twenty-four pigs were randomly divided into 4 groups, exposed to 0, 10, 25 or
Shanlong Tang, Chang Yin, Jingjing Xie, Jinglin Jiao, Liang Chen, Lei Liu, Sheng Zhang, Hongfu Zhang   +7 more
doaj   +1 more source

Branched-chain amino acid catabolism promotes M2 macrophage polarization

Frontiers in Immunology
IntroductionDuring an immune response, macrophages undergo systematic metabolic rewiring tailored to support their functions. Branched-chain amino acid (BCAA) metabolism has been reported to modulate macrophage function; however, its role in macrophage ...
Manxi Lu, Da Luo, Zixuan Zhang, Feng Ouyang, Yihong Shi, Changyong Hu, Hang Su, Yining Li, Jiayi Zhang, Qian Gui, Tian-Shu Yang, Tian-Shu Yang, Tian-Shu Yang   +12 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease

Frontiers in Genetics, 2018
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes.
Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu   +9 more
doaj   +1 more source

Lactose‐Derived Carbohydrates Induce Sexually Dimorphic Nutritional Programming Effects on Lifespan in Drosophila melanogaster

Aging Cell, Volume 25, Issue 3, March 2026.
Early‐life co‐consumption of galactose and glucose (hydrolyzed lactose) programs Drosophila melanogaster lifespan in a sex‐specific manner. Particularly, the co‐consumption of galactose and glucose programs extended lifespan when female flies were challenged by obesogenic diets later in life, and this is concomitant with remodeling of lipid metabolism,
Peixin Sun, Shiying Shao, Robin W. Creemers, Anna F. Bekebrede, Jing Tang, Steven Driever, Jaap Keijer, Evert M. van Schothorst   +7 more
wiley   +1 more source