Results 91 to 100 of about 6,315 (194)

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Orphanet Journal of Rare Diseases, 2020
Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura   +8 more
doaj   +1 more source

Differenzierung von Wildtyp und GNE-defizienten murinen embryonalen Stammzellen in „Embryoid bodies“ [PDF]

, 2013
Die UDP-N-Acetylglukosamin-2-Epimerase/N-Acetylmannosamin-Kinase (GNE) ist das Schlüsselenzym im Biosyntheseweg der Sialinsäuren. Bei dem Versuch eine GNE-defiziente Maus zu generieren, zeigte sich, dass murine GNE-defiziente Embryonen am Tag 8.5 ...
Hering, Jessica
core   +1 more source

Novel missense variants associated with GNE myopathy

GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups.
Lucchini M., Mirabella M., Tasca G.
core   +2 more sources

GNE Myopathy: Rare Muscle Weakness Disease [PDF]

GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
core   +1 more source

Native Mass Spectrometry for the Study of PROTAC GNE‐987‐Containing Ternary Complexes

, 2021
PRO teolysis TA rgeting C himeras (PROTACs) promote the degradation, rather than inhibition, of a drug target as a mechanism for therapeutic treatment.
Miaomiao Liu, Melinda M. Mulvihill, Liu, Miaomiao, Ronald J. Quinn, Jim Nonomiya, Nonomiya, Jim, Mulvihill, Melinda M, Louise M. Sternicki, Sternicki, Louise M, Quinn, Ronald J   +9 more
core   +1 more source

Antitumor Activity of USP7 Inhibitor GNE-6776 in Non-Small Cell Lung Cancer Involves Regulation of Epithelial-Mesenchymal Transition, Cell Cycle, Wnt/β-Catenin, and PI3K/AKT/mTOR Pathways

Pharmaceuticals
Objective: Non-small cell lung cancer (NSCLC) is a major cause of cancer-related deaths worldwide. This study investigated the effects and mechanisms of the USP7 inhibitor GNE-6776 on human NSCLC A549 and H1299 cells, providing insights for anti-NSCLC ...
Lipeng Wu, Long Lin, Meng Yu, Huajian Li, Yuanye Dang, Huosheng Liang, Guangyang Chen, Halimulati Muhetaer, Guodong Zheng, Jingjing Li, Xuejing Jia, Bo Wu, Chuwen Li   +12 more
doaj   +1 more source

GNE^M712T muscles display changes to GM3 levels.

, 2013
GneM712T/M712T (grey) mouse muscle experienced reduced levels of GM3 gangliosides compared with Gne+/+ (white) muscle. HPLC data from a minimum of five replicates are pooled for the Gne+/+ and GneM712T/M712T samples (*, p = 0.008751, Student t test).
Zoé Coulombe (365862), Jacques P. Tremblay (304709), Thomas Paccalet (222440)   +2 more
core   +1 more source

Die C57BL/6 GNE+/-Maus als Modell für die hereditäre Einschlusskörpermyopathie Typ 2 (h-IBM2) [PDF]

, 2016
Die folgende Arbeit befasst sich mit der Fragestellung, ob das von Schwarzkopf et al. generierte GNE+/- Mausmodell ein Modell für die Einschlusskörpermyopathie (GNE Myoptahie) darstellen kann.
Großmann, Mona
core   +1 more source

Gelatin Nanoemulsion-Based Co-Delivery of Terbinafine and Essential Oils for Treatment of Candida albicans Biofilms

Microorganisms
Fungal infections represent a significant global health challenge. Candida albicans is a particularly widespread pathogen, with both molecular and biofilm-based mechanisms making it resistant to or tolerant of available antifungal drugs.
Muhammad Aamir Hassan, Sadaf Noor, Jungmi Park, Ahmed Nabawy, Maitri Dedhiya, Robin Patel, Vincent M. Rotello   +6 more
doaj   +1 more source

Production of sialic acid affected by GNE gene mutations [PDF]

, 2012
Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive disorder characterized by adult onset muscle-wasting, affecting both proximal and distal muscles.
Rajaei, Atefeh
core   +1 more source