Results 81 to 90 of about 63,582 (298)

Modelling Inborn Errors of Metabolism in Zebrafish

, 2014
The majority of human inborn errors of metabolism are fatal multisystem disorders that lack proper treatment and have a poorly understood mechanistic basis.
Russell, C, Wager, K, Mahmood, Fahad, Wager, Kim, Kim Wager, Fahad Mahmood, Russell, Claire, Mahmood, F, Claire Russell   +8 more
core   +1 more source

Pathological Copper Overload Reprograms SOD1 Activation via COMMD1 to Promote Senescence and Fibrosis

Advanced Science, EarlyView.
This study uncovers a previously unrecognized copper‐COMMD1‐SOD1 regulatory axis, revealing that pathological copper overload paradoxically suppresses SOD1 activity by promoting COMMD1‐dependent disruption of SOD1 homodimerization. These findings redefine the regulatory role of copper in SOD1 biology and provide novel mechanistic insight into the ...
Yuqing Liu, Jing Liu, Wenqian Zhou, Yangyang Niu, Yan Zheng, Yiguo Liu, Yingying Zhang, Chen Yu   +7 more
wiley   +1 more source

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Orphanet Journal of Rare Diseases
Background Gaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates.
Ayşe Akyüz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Süheyl Ezgü   +4 more
doaj   +1 more source

Disentangling Inborn and Acquired Immunity in Human Twins [PDF]

, 2015
The human geneticist Archibald Garrod noted in 1931 that, “It is, of necessity, no easy matter to distinguish between immunity which is inborn and that which has been acquired” (The Inborn Factors in Disease). In this issue of Cell, Brodin et al.
Casanova, Jean-Laurent, Abel, Laurent
core   +1 more source

Targeting GALNT7 Disrupts the TAZ O‐GalNAcylation Feedback Loop to Suppress Gallbladder Cancer Progression

Advanced Science, EarlyView.
Aberrant GALNT7‐mediated O‐GalNAcylation stabilizes TAZ to drive gallbladder cancer progression through a feed‐forward transcriptional loop. Structure‐based screening identifies Olaparib as a potent GALNT7 antagonist that disrupts this oncogenic axis, providing an immediate therapeutic strategy for this aggressive malignancy.
Peng Qiu, Ming Zhang, Yunxiang Feng, Yibo Deng, Kai Zhao, Xiangyu Li, Yun Lu, Li Tian, Tao Yang, Wei Yao, Jianming Wang, Zhengdong Deng   +11 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

An Artificially Selected Cytokinin‐Pathway Transcription Factor Balances Soybean Yield and Pathogen Resistance

Advanced Science, EarlyView.
A cytokinin pathway transcription factor, RR2b, was artificially selected during soybean domestication and improvement based on its differential transcriptional activity, which correlates with ATT repeat polymorphisms in its promoter. RR2b balances yield and defense by fine‐tuning its expression level and offers a promising target for decoupling trade ...
Qun Ma, Yaqing Chen, Yiwen Gao, Xueting Hu, Qun Yang, Yucheng Liu, Peiyong Xin, Jijun Yan, Jinfang Chu, Lei Li, Zhixi Tian, Bo Ren   +11 more
wiley   +1 more source

SPSB1 Promotes Subcutaneous Adipose Hyperplasia in Facial Port‐Wine Stains by Controlling HDAC1 Degradation and Stability Through Two Distinct Proteolytic Pathways

Advanced Science, EarlyView.
In PWS‐ASPCs, FOSL1 drives the expression of SPSB1. SPSB1, as part of the ESC complex, further binds to HDAC1 and promotes K29‐linked and K48‐linked polyubiquitination of HDAC1. These modifications facilitate the degradation of HDAC1 through the ALP and UPS pathways, respectively.
Hongrui Chen, Bin Sun, Yajing Qiu, Chen Hua, Xiaoxi Lin, Wei Gao   +5 more
wiley   +1 more source