Results 111 to 120 of about 10,033,806 (381)

Mitochondrial diseases and status epilepticus

Epilepsia, 2018
This narrative review focuses on the pathophysiology, diagnosis, and management of status epilepticus in the context of primary mitochondrial disease. Epilepsy is common in mitochondrial disease, reported in >20% of adult cases and 40%‐60% of pediatric ...
S. Rahman
semanticscholar   +1 more source

Mitochondrial DNA and disease

Annals of Medicine, 2005
The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence
Guido Davidzon, Salvatore DiMauro
openaire   +3 more sources

Thermal proteome profiling and proteome analysis using high‐definition mass spectrometry demonstrate modulation of cholesterol biosynthesis by next‐generation galeterone analog VNPP433‐3β in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Elevated level of cholesterol is positively correlated to prostate cancer development and disease severity. Cholesterol‐lowering drugs, such as statins, are demonstrated to inhibit prostate cancer. VNPP433‐3β interrupts multiple signaling and metabolic pathways, including cholesterol biosynthesis, AR‐mediated transcription of several oncogenes, mRNA 5′
Retheesh S. Thankan, Elizabeth Thomas, Mehari M. Weldemariam, Puranik Purushottamachar, Weiliang Huang, Maureen A. Kane, Yuji Zhang, Nicholas Ambulos, Bi‐Dar Wang, David Weber, Vincent C. O. Njar   +10 more
wiley   +1 more source

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

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Brain : a journal of neurology, 2017
Sir, In the past, numerous articles related to disorders of mitochondrial cofactor metabolism have been published in Brain (Ozand et al. , 1998; Gempel et al. , 2007; Johnson et al. , 2012; Foley et al. , 2014; Haack et al.
F. Distelmaier, T. Haack, S. Wortmann, J. Mayr, H. Prokisch   +4 more
semanticscholar   +1 more source

Mitochondrial disease and epilepsy

Brain and Development, 2013
Mitochondrial diseases are a group of diseases caused by dysfunctional mitochondria, organelles that generate energy for the cell. Mitochondrial diseases are often caused by mutations, acquired, or inherited in the mitochondrial DNA or nuclear genes that code for respiratory chain complexes in the mitochondrion.
Young Mock Lee, Heung Dong Kim, Hoon Chul Kang   +2 more
openaire   +4 more sources

Elucidating prognostic significance of purine metabolism in colorectal cancer through integrating data from transcriptomic, immunohistochemical, and single‐cell RNA sequencing analysis

Molecular Oncology, EarlyView.
Low expression of five purine metabolism‐related genes (ADSL, APRT, ADCY3, NME3, NME6) was correlated with poor survival in colorectal cancer. Immunohistochemistry analysis showed that low NME3 (early stage) and low ADSL/NME6 (late stage) levels were associated with high risk.
Sungyeon Kim, Myunghee Kang, Soyeon Jeong, Jisup Kim, Kyoung Oh Kim, Won‐Suk Lee, Jeong‐Heum Baek, Jung Ho Kim, Seungyoon Nam   +8 more
wiley   +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

In Vitro Analysis of the Thyroid Hormone Receptor in Mitochondrial Transcription [PDF]

, 2017
The central dogma theory relates how DNA is transcribed into messenger RNA (mRNAs) and then translated into proteins. Since the nucleus contains the majority of the DNA in cells, research related to transcription and translation focuses on these ...
Bestwick, Megan, Bruce, Kelsey, LeGrady, Dylan, Martinez, Adan A.   +3 more
core   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source