Results 171 to 180 of about 51,102 (238)

CREB binding protein (CREBBP): Structure-based perspectives for the development of clinical inhibitors. [PDF]

Transl Oncol
Liu R, Li J, Nian Q, Tu G, Wang Z, Zhang R, Li G.   +6 more
europepmc   +1 more source

Novel missense variants associated with GNE myopathy

Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +1 more source

Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.

Molecular Genetics and Metabolism
Defects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM).
Beatriz L. Pereira, Mariana Barbosa, Pedro Granjo, H. Lochmüller, Paula A. Videira   +4 more
semanticscholar   +3 more sources

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A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.

Gene
Distal myopathies are a group of rare heterogeneous diseases that are mostly caused by genetic factors. At least 20 genes have been associated with distal myopathies.
Yufei Li, Wenwu Li, Baitong Fan, Yao Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun   +9 more
semanticscholar   +3 more sources

Altered Autophagic Flux in GNE mutant cells of Indian Origin: potential drug target for GNE Myopathy.

Experimental Cell Research
Autophagy phenomenon in the cell maintains proteostasis balance by eliminating damaged organelles and protein aggregates. Imbalance in autophagic flux may cause accumulation of protein aggregates in various neurodegenerative disorders.
Jyoti Oswalia, Shagun Singh, Vaishali Gautam, Ranjana Arya   +3 more
semanticscholar   +3 more sources

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges [PDF]

Neurotherapeutics, 2018
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid ...
Nuria Carrillo-Carrasco, Marjan Huizing
exaly   +3 more sources

Muscle imaging findings in GNE myopathy

Journal of Neurology, 2012
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon ...
Giorgio Tasca, Enzo Ricci, Mauro Monforte   +2 more
exaly   +4 more sources

GNE myopathy in India

Neurology India, 2013
GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathyOver the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases
Atchayaram, Nalini, Narayanappa, Gayathri, Ischizo, Nishino, Yukiko K, Hayashi   +3 more
openaire   +2 more sources

Novel GNE compound heterozygous mutations in a GNE myopathy patient

Muscle & Nerve, 2013
ABSTRACTIntroduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) and Z‐band alternatively spliced PDZ motif‐containing protein (ZASP) genes.
Huaying, Cai, Ichiro, Yabe, Shinichi, Shirai, Hiroaki, Nishimura, Makoto, Hirotani, Takahiro, Kano, Hideki, Houzen, Kazuto, Yoshida, Hidenao, Sasaki   +8 more
openaire   +2 more sources