Results 131 to 140 of about 462,885 (376)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Effect of glucose deprivation on the expression of genes encoding glucocorticoid receptor and some related factors in ERN1-knockdown U87 glioma cells

Endocrine Regulations, 2019
Objective. The aim of the present study was to examine the effect of glucose deprivation on the expression of genes encoded glucocorticoid receptor (NR3C1) and some related proteins (NR3C2, AHR, NRIP1, NNT, ARHGAP35, SGK1, and SGK3) in U87 glioma cells ...
Riabovol Olena O., Tsymbal Dariia O., Minchenko Dmytro O., Lebid-Biletska Kateryna M., Sliusar Myroslava Y., Rudnytska Olha V., Minchenko Oleksandr H.   +6 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Endoplasmic reticulum stress and diabetic retinopathy

Vascular Health and Risk Management, 2008
Endoplasmic reticulum (ER) stress is involved in the pathogenesis of several diseases including Alzheimer disease and Parkinson disease. Many recent studies have shown that ER stress is related to the pathogenesis of diabetes mellitus, and with the death of pancreatic beta-cells, insulin resistance, and the death of the vascular cells in the retina ...
Toshiyuki Oshitari, Natsuyo Hata, Shuichi Yamamoto   +2 more
openaire   +5 more sources

The Induction of Dendritic Cell Endoplasmic Reticulum Stress by Irradiated-Tumor Derived Extracellular Vesicles Supports the Adoption of a Pro-Tumor Phenotype [PDF]

, 2020
The Induction of Macrophage Endoplasmic Reticulum Stress by Irradiated-Tumor Derived Extracellular Vesicles Supports the Adoption of a Pro-Tumor Phenotype Sitara Mahmoodi, Depts. of Biology and Chemistry, with Dr. Sarah Golding, Dept.
Mahmoodi, Sitara
core   +1 more source

Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis. [PDF]

, 2013
Miner1 is a redox-active 2Fe2S cluster protein. Mutations in Miner1 result in Wolfram Syndrome, a metabolic disease associated with diabetes, blindness, deafness, and a shortened lifespan.
Andreyev, Alexander Y, Chen, Yi-Fan, Divakaruni, Ajit S, Dixon, Jack E, Karisch, Robert, Murphy, Anne N, Neel, Benjamin G, Perkins, Guy, Simon, Melvin I, Tsai, Ting-Fen, van der Geer, Peter, Wall, Estelle A, Wiley, Sandra E   +12 more
core   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Endoplasmic reticulum stress and liver diseases

Liver Research, 2019
Endoplasmic reticulum (ER) stress occurs when ER homeostasis is perturbed with accumulation of unfolded/misfolded protein or calcium depletion. The unfolded protein response (UPR), comprising of inositol-requiring enzyme 1α (IRE1α), PKR-like ER kinase (PERK) and activating transcription factor 6 (ATF6) signaling pathways, is a protective cellular ...
Xiaoying Liu, Richard M. Green
openaire   +3 more sources

Pancreatic eukaryotic initiation factor-2α kinase (PEK) homologues in humans, Drosophila melanogaster and Caenorhabditis elegans that mediate translational control in response to endoplasmic reticulum stress [PDF]

, 2000
Ruchira Sood, Amy C. Porter, Kun Ma, Lawrence A. Quilliam, Ronald C. Wek   +4 more
openalex   +2 more sources

Compartmentalisation and localisation of the translation initiation factor (eIF) 4F complex in normally growing fibroblasts [PDF]

, 2006
Previous observations of association of mRNAs and ribosomes with subcellular structures highlight the importance of localised translation. However, little is known regarding associations between eukaryotic translation initiation factors and cellular ...
Barbarese, Bassell, Bergamini, Biegel, Bonneau, Bushell, Bushell, Caron, Carson, Cervera, Chicurel, Clore, Coldwell, Cowan, Cuesta, Culjkovic, Dang, Delom, Farina, Farmer, Hamill, Hasek, Hill, Hou, Hovland, Hudder, Jansen, Jansen, Jockusch, Kedersha, Kedersha, Kedersha, Kedersha, Kim, Kimball, Kislauskis, Kloc, Latham, Lemieux, Lenk, Lerner, Lerner, Levadoux, Lin, Lindemann, Liu, Mark Willett, Mickleburgh, Micklem, Moore, Moore, Munshi, Murray, Negrutskii, Negrutskii, Negrutskii, Nicchitta, Ornelles, Palacek, Patrick, Pincheira, Prahlad, Pramanik, Prevot, Ramaekers, Shestakova, Simon A. Flint, Simon J. Morley, Smart, Stapulionis, Stapulionis, Svitkin, Svitkin, Taneja, Thoma, Traub, Trombetta, Umikawa, Valouev, van Venrooij, Virginia M. Pain, Wang, Woods   +82 more
core   +1 more source