Results 1 to 10 of about 742,356 (291)

Sex-Biased Gene Flow Among Elk in the Greater Yellowstone Ecosystem [PDF]

, 2014
We quantified patterns of population genetic structure to help understand gene flow among elk populations across the Greater Yellowstone Ecosystem.
Anderson, Neil, Beja-Pereira, Albano, Chen, Shanyuan, Cross, Paul C., Ebinger, Michael, Edwards, Hank, Garrott, Robert A., Hand, Brian K., Kardos, Marty D., Kauffman, Matt, Landguth, Erin L., Luikart, Gordon, Middleton, Arthur, Schwartz, Michael K., Scurlock, Brandon, White, P.J., Zager, Pete   +16 more
core   +1 more source

Neuropilin-1 Controls Endothelial Homeostasis by Regulating Mitochondrial Function and Iron-Dependent Oxidative Stress. [PDF]

, 2018
The transmembrane protein neuropilin-1 (NRP1) promotes vascular endothelial growth factor (VEGF) and extracellular matrix signaling in endothelial cells (ECs).
Bosseboeuf, E, Chikh, A, De Winter, N, Dufton, N, Gestri, G, Issitt, T, Raimondi, C, Randi, AM, Senatore, V   +8 more
core   +3 more sources

Elevated peripheral inflammation is associated with choroid plexus enlargement in independent sporadic amyotrophic lateral sclerosis cohorts

Fluids and Barriers of the CNS
Background Using neuroimaging techniques, growing evidence has suggested that the choroid plexus (CP) volume is enlarged in multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS).
Sujuan Sun, Yujing Chen, Yan Yun, Bing Zhao, Qingguo Ren, Xiaohan Sun, Xiangshui Meng, Chuanzhu Yan, Pengfei Lin, Shuangwu Liu   +9 more
doaj   +1 more source

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi009-A) from a patient with amyotrophic lateral sclerosis due to SOD1 mutation

Stem Cell Research
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive degeneration of nerve cells in the spinal cord and brain.
Bo Li, Haoran Mu, Didi Shan, Yitong Yang, Yingxin Wang, Jianing Li, Hongxu Wang, Xiaohan Sun, Xinbo Ji, Zexin Zhan, Yichang Jiao, Yao Tang, Bo Kong, Bo Gao, Yu Wang, Ping Sun, Fuchen Liu   +16 more
doaj   +1 more source

Growth differentiation factor 15: a valuable biomarker for the diagnosis and prognosis of late-onset form of multiple Acyl-CoA dehydrogenation deficiency

Orphanet Journal of Rare Diseases
Background Multiple acyl-CoA Dehydrogenation Deficiency (MADD) is a hereditary metabolic disorder affecting the metabolism of fatty acids, amino acids, and choline, typically presenting with fat accumulation and mitochondrial abnormalities in muscle ...
Sun Yuan, Tang Shuyao, Lyu Jingwei, Wen Bing, Xu Jingwen, Li Busu, Zhao Bing, Ji Kunqian, Yan Chuanzhu   +8 more
doaj   +1 more source

Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy

Journal of Inborn Errors of Metabolism and Screening, 2017
Leber’s hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial disorders. It is caused by mutations in genes of the mitochondrial DNA coding for subunits of the respiratory chain and leads to severe bilateral vision loss, from which
Claudia B. Catarino MD, PhD, Thomas Klopstock MD   +1 more
doaj   +1 more source

Recombinant Mitochondrial Transcription Factor A with N-terminal Mitochondrial Transduction Domain Increases Respiration and Mitochondrial Gene Expression in G11778A Leber's Hereditary Optic Neuropathy Cybrid Cells [PDF]

, 2008
Diseases involving mitochondrial defects usually manifest themselves in high-energy, post-mitotic tissues such as brain, retina, skeletal and cardiac muscle and frequently cause deficiencies in mitochondrial bioenergetics.
Caitlin K. Quigley, Francisco R. Portell, James P. Bennett, Lisa D. Dunahm, Ravindar R. Thomas, Shilpa Iyer   +5 more
core   +1 more source

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1

Orphanet Journal of Rare Diseases
Background Glutaric Aciduria Type 1 (GA-1) is a rare metabolic disorder characterized by a deficiency in glutaryl-coenzyme A dehydrogenase (GDH), leading to the accumulation of neurotoxic compounds that affect neurodevelopment.
Zamora-Crespo Berta, Moreno-Ramos Zaida, Martínez de Aragón Ana, Núñez-Enamorado Noemí, Martin-Bejarano Manuela, Villaluenga Raquel, Barrio Delia, Bellusci Marcello, Martín-Hernández Elena, Quijada-Fraile Pilar   +9 more
doaj   +1 more source

Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation

Stem Cell Research
We used a non-integrated reprogramming approach to establish a human induced pluripotent stem cell (hiPSC) line (INNDSUi011-A) from the skin fibroblasts of a 38-year-old female individual with autosomal dominant spastic paraplegia 9A due to ALDH18A1 ...
Didi Shan, Hongxu Wang, Jianing Li, Yu Wang, Fuchen Liu   +4 more
doaj   +1 more source