Results 1 to 10 of about 6,315 (194)

Preclinical assessment of GNEwt/bi-shRNA-GNEM743T lipoplex product development for GNE myopathy [PDF]

Future Science OA
Aims GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production.
Fabienne Kerneis, Christopher M Jay, Donald Rao, Jeremy Winchester, Alexander Nemunaitis, Emily Nemunaitis, Ernest Bognar, Gladice Wallraven, Laura Stanbery, Adam Walter, Sep Sarshar, John Nemunaitis   +11 more
doaj   +4 more sources

Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in Cell and Developmental Biology, 2022
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Stella Mitrani-Rosenbaum, Avi Harazi
exaly   +3 more sources

Nicotinic Acid Restriction Enhances the Therapeutic Benefit of NAMPT Inhibition in Small-Cell Lung Cancer Models. [PDF]

Cancer Sci
Dietary NA restriction converts the effect of NAMPT inhibition from cytostatic to cytotoxic in SCLC in vivo. ABSTRACT Small‐cell lung cancer (SCLC) is an aggressive malignancy with limited therapeutic options. We previously showed that nicotinic acid riboside (NAR) sustains NAD biosynthesis in vivo and compensates for NAMPT inhibition in SCLC models ...
Tsurumi K, Nomura M, Ouchi M, Yagishita S, Kikuchi N, Sato T, Morita M, Yamashita Y, Hayashi K, Soga T, Hamada A, Fukuhara T, Tanuma N.   +12 more
europepmc   +2 more sources

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India. [PDF]

Clin Case Rep
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Bhanushali A, Kawalakatt A, Kulkarni S, Nair P, Mali A, Pradhan A, Chatterjee A.   +6 more
europepmc   +2 more sources

In vivo and in vitro genome editing to explore GNE functions

Frontiers in Genome Editing, 2022
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Stella Mitrani-Rosenbaum, Avi Harazi
exaly   +3 more sources

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance [PDF]

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +2 more sources

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS ONE
ObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri, Suppakorn Yamutai, Pramot Tanutit, Jirakit Sattayapornpipat, Chariyawan Charalsawadi, Prut Koonalintip, Pornchai Sathirapanya, Suwanna Setthawatcharawanich, Rattana Leelawattana, Pat Korathanakhun   +9 more
doaj   +2 more sources

Defective autophagy in GNE myopathy is rescued by inhibition of noncanonical Akt–mTORC1 activation across multiple isogenic models [PDF]

Experimental and Molecular Medicine
GNE myopathy is a recessive autosomal disease caused by mutations in glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), characterized by impaired sialic acid biosynthesis and the formation of rimmed vacuoles.
Dong-Woo Kim, Eun-Ji Kwon, Hyuk Kwon, Jumee Kim, Hyuk-Jin Cha   +4 more
doaj   +2 more sources

Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy [PDF]

Human Genome Variation
GNE myopathy is a rare autosomal recessive myopathy caused by biallelic pathogenic variants in GNE, which encodes an essential enzyme for sialic acid biosynthesis.
Nozomi Toide, Ryo Iwase, Mitsugu Yanagidaira, Sumihito Togi, Hiroki Ura, Makiko Egawa, Eriko Takamine, Hiroya Kuwahara, Sonoko Misawa, Masayuki Yoshida, Yo Niida, Taro Ishiguro   +11 more
doaj   +2 more sources

Covalent pan-TEAD inhibitors block YAP activity and demonstrate brain penetrance in a Hippo-dependent cancer model [PDF]

Nature Communications
TEAD transcription factors enable the oncogenic activity of deregulated Hippo signaling and are a promising therapeutic target in oncology. Targeting the TEAD lipid pocket is an established path to inhibit the oncogenic activities of cofactors YAP and ...
Thijs J. Hagenbeek, Jason Zbieg, Russell Smith, Sayantanee Paul, Luca Gerosa, Consuelo Torrini, Alissa D. Guarnaccia, Christy Ong, Jennifer A. Lacap, Miaoran Ning, Nicole M. Sodir, Marc Hafner, Julien Tremblay, James Hawley, Bryan Chan, Vishal A. Verma, Ramsay E. Beveridge, Peter L. Hsu, Gözde Ulas, Lisha Wang, Jim Nonomiya, Shu Chen, Victoria Pham, Joshua Webster, Jessica Preston, Jeff Hung, Jeff Eastham, Debra Dunlap, Wendy Lee, Paul Beroza, Naema Nayyar, Scott Martin, Eva Lin, Julie Weng, Scott A. Foster, Frances Shanahan, Rina Fong, Gladys Boenig, Paola Di Lello, Marta H. Kubala, Thomas Hunsaker, Mirunalini Ravichandran, Pablo Saenz-Lopez Larrocha, Jeffrey Lau, Le An, Elizabeth Levy, Maria N. Lorenzo, Jennie R. Lill, Zora D. Modrusan, Yi-Chen Chen, Xiaosai Yao, Priscilla K. Brastianos, Danilo Maddalo, Anwesha Dey   +53 more
doaj   +2 more sources