Results 91 to 100 of about 422,094 (137)

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Ellul, Marthese, Grixti, Charles J., Chircop, Marcelle, Grech, Victor E.   +3 more
core  

Functional prediction of the potential NGLY1 mutations associated with rare disease CDG

Genetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal
Ruijie Liu, Yanwen Chen, Yuxin Zhang, Shuying Yuan, Dongqing Cheng, Shaoxing Zhang, Cuiying Chen, Lin Zou, Li Chen, Xinrong Lu, Guiqin Sun   +10 more
core   +1 more source

Suppression of glycosidase NGLY1 induces multifaceted anticancer responses.

, 2018
Purpose: NGLY1 is a pivotal enzyme that catalyzes the deglycosylation of denatured glycoproteins and facilitates proteasome-mediated protein degradation.
Lin, Victor, Parab, Abhishek, Hoffmann, Peter, Emmitte, Kyle, Ho, Yin, Zolekar, Ashwini, Wang, Yu-chieh, Mishra, Nigam, Hayatshahi, Hamed, Sampat, Rohit, Liu, Jin, Liao, Xiaoyan   +11 more
core  

MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency

Abstract Key Points Question Is NGLY1 Deficiency associated with consistent alterations in brain structure and do these alterations relate to clinical phenotypes?
Emily L Dennis, Lei Zhu, William F Mueller, Jennifer W Cook, Gracie Morrison, Matt Wilsey, Ryan Dant, Selina Dwight, Kevin J Lee   +8 more
openaire   +1 more source

Global, regional and national burden of dietary iron deficiency from 1990 to 2021: a Global Burden of Disease study

Although iron deficiency is well documented, less is known about dietary involvement in symptomatic iron deficiency manifesting in medical conditions. In this study, we quantified the global burden of dietary iron deficiency, focusing on where inadequate
Adegboye, Oyelola A., Lee, Sooji, Addo, Isaac Yeboah, Abate, Semagn Mekonnen, Abate, Yohannes Habtegiorgis, Abie, Alemwork, Abukhadijah, Hana J., Adzigbli, Leticia Akua, Abouzid, Mohamed, Agyemang-Duah, Williams, Kim, Min Seo, Abualruz, Hasan, Ahmad, Aqeel, Abdullahi, Auwal, ElHafeez, Samar Abd, Abiodun, Olumide, Aburuz, Salahdein, Abebe, Mesfin, Ahmed, Syed Anees, Abdulkader, Rizwan Suliankatchi, Adnani, Qorinah Estiningtyas Sakilah, Son, Yejun, Fischer, Florian, Abedi, Armita, Adamu, Lawan Hassan, Abu-Zaid, Ahmed, Akinosoglou, Karolina, Agampodi, Suneth Buddhika, Abd-Elsalam, Sherief, Ahmad, Muayyad M., Abreu, Lucas Guimarães, Yon, Dong Keon, Aboagye, Richard Gyan, Shin, Jae Il, Ahmed, Ali, Akter, Ema, Abolhassani, Hassan, Hwang, Jiyoung, Abdoun, Meriem, Adane, Mesafint Molla, Ahmad, Shahzaib, Ahmad, Tauseef, Ahmed, Mehrunnisha Sharif, Ajami, Marjan, Adetunji, Charles Oluwaseun, Adekanmbi, Victor, Afzal, Saira, Ahmed, Haroon, Adeyeoluwa, Temitayo Esther, Ahmed, Ayman   +49 more
core   +3 more sources

Additional file 1 of NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Additional file 1. Supplementary Tables 1–3 and Supplementary Figures 1–3.
Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.   +8 more
openaire   +1 more source

A High Throughput and Integrative Approach to Evaluating the Functional Significance of a Glycosidase NGLY1 in Human Brain Development

, 2017
Research Appreciation Day Award Winner - 2017 Community Awards, Quest Diagnostics Research AwardResearch Appreciation Day Award Winner - 2017 Institute for Healthy Aging Poster AwardResearch Appreciation Day Award Winner - 2017 Graduate School of ...
Lin, Victor, Zolekar, Ashwini, Wang, Jack, Shakhbazau, Antos   +3 more
core  

Targeting Wnt signaling with GSK3 inhibition restores pathway activity in NGLY1-deficient mouse embryonic fibroblasts

NGLY1 deficiency is a rare congenital disorder caused by mutations in the NGLY1 gene, which encodes an enzyme responsible for deglycosylating misfolded glycoproteins prior to proteasomal degradation.
Ghannad Zadeh, Rojin
core  

Natural history of NGLY1 deficiency: motor function & clinical features. [PDF]

Hum Mol Genet
Morrison G, Dwight S, Landy H, Mueller WF, Ventola P, Deck R, Schweighardt B, Wilsey M, Lee KJ, Suter B.   +9 more
europepmc   +1 more source

Deglycosylation at War: Host N-Glycoprotein Remodeling in Infection and Immunity. [PDF]

Infect Drug Resist
Qian X, Wang J, Zhang Y, Lin Q, Ye Y, Lin J, Lu X, Yuan S, Chen L, Sun G.   +9 more
europepmc   +1 more source