Zobrazeno 1 - 10
of 251
pro vyhledávání: '"PROTEIN-ASSOCIATED NEURODEGENERATION"'
Autor:
Chiara Cavestro, Marco D’Amato, Maria Nicol Colombo, Floriana Cascone, Andrea Stefano Moro, Sonia Levi, Valeria Tiranti, Ivano Di Meo
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Coenzyme A (CoA), which is widely distributed and vital for cellular metabolism, is a critical molecule essential in both synthesizing and breaking down key energy sources in the body. Inborn errors of metabolism in the cellular de novo biosynthetic
Externí odkaz:
https://doaj.org/article/cf47d9c7bc2447b284ab47dcc32212dd
Autor:
Sihui Chen, Xiaohui Lai, Jiajia Fu, Jing Yang, Bi Zhao, Huifang Shang, Rui Huang, Xueping Chen
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare and devastating disease caused by pathogenic mutations in C19orf12 gene. MPAN is characterized by pathological iron accumulation in the brain and fewer t
Externí odkaz:
https://doaj.org/article/7a9974bd6dd74919aadedd919f538770
Publikováno v:
Türk Nöroloji Dergisi, Vol 28, Iss 2, Pp 118-121 (2022)
Neurodegeneration with brain iron accumulation (NBIA) encompasses a number of heritable disorders affecting children and adults characterized by diverse clinical manifestations and brain iron deposition detected on magnetic resonance imaging (MRI). T
Externí odkaz:
https://doaj.org/article/bceab3c0c1fd4d609cc87322286defbf
Autor:
Yue Yang, Shijie Zhang, Wenming Yang, Taohua Wei, Wenjie Hao, Ting Cheng, Jiuxiang Wang, Wei Dong, Nannan Qian
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene. However, a few C19orf12 monoallelic
Externí odkaz:
https://doaj.org/article/e5497dd419774d49bcf7c2f6541d430b
Autor:
Enrica Zanuttigh, Kevork Derderian, Miriam A. Güra, Arie Geerlof, Ivano Di Meo, Chiara Cavestro, Stefan Hempfling, Stephanie Ortiz-Collazos, Mario Mauthe, Tomasz Kmieć, Eugenia Cammarota, Maria Carla Panzeri, Thomas Klopstock, Michael Sattler, Juliane Winkelmann, Ana C. Messias, Arcangela Iuso
Publikováno v:
Pharmaceutics, Vol 15, Iss 1, p 267 (2023)
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a relentlessly progressive neurodegenerative disorder caused by mutations in the C19orf12 gene. C19orf12 has been implicated in playing a role in lipid metabolism, mitochondrial fu
Externí odkaz:
https://doaj.org/article/08ddda2e943348d48dfa60c232cfa9f8
Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of progressive neurodegenerative diseases characterized by iron deposition in the globus pallidus and the substantia nigra. As of today, 15 distinct monogenetic disease en
Externí odkaz:
https://doaj.org/article/ead07bfe96044f9f9b58d34892be4233
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 6, Pp 802-804 (2020)
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membr
Externí odkaz:
https://doaj.org/article/8dcba0312f454376912fcd9d442d49fd
Autor:
Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris
Publikováno v:
Journal of Movement Disorders, Vol 11, Iss 2, Pp 89-92 (2018)
We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition ar
Externí odkaz:
https://doaj.org/article/dd31be3e81f042a0bbc364a74060ff49