Results 141 to 150 of about 613,759 (317)

Circular DNA's from HeLa cell nuclei and mitochondria

, 1970
An electron microscopic observation was made on the DNA's extracted from purified HeLa cell nuclei, mitochondria, and the whole cell, and fractionated by ethidium bromide-cesium chloride density gradient method or sucrose density gradient method. Nuclear
Oda, Takuzo, Yamamoto, Shinichiro, Hirata, Seiichi, Nishida, Shigeru, Omura, Sachiko   +4 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Mitochondrial D-loop mutations and deletion profiles of cancerous and noncancerous liver tissue in hepatitis B virus-infected liver

, 2005
The largest single underlying cause of hepatocellular carcinoma (HCC) worldwide is hepatitis B virus (HBV) infection. Hepatitis B virus increases cellular oxidative stress and the development of HCC occurs after a long latency period.
J A Ross, Wheelhouse, Nicholas M, D J Harrison, Wigmore, S J, Lai, P B S, P B S Lai, Wheelhouse, N M, Ross, J A, Harrison, D J, N M Wheelhouse, S J Wigmore   +10 more
core   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Nucleic acids and protein synthesis in cancer cell mitochondria. I. Nucleic acids in rat hepatoma mitochondria

, 1967
The contents of nucleic acids in rat liver and hepatoma mitochondria and the physico-chemical properties on DNA's isolated from these mitochondria were comparatively investigated. The results are briefly summarized as follows. 1.
Inaba, Kozo
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +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

, 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.
James P. Bennett, Ravindar R. Thomas, Shilpa Iyer, Francisco R. Portell, Caitlin K. Quigley, Lisa D. Dunahm   +5 more
core  

Wolbachia and DNA barcoding insects: patterns, potential and problems

, 2012
Wolbachia is a genus of bacterial endosymbionts that impacts the breeding systems of their hosts. Wolbachia can confuse the patterns of mitochondrial variation, including DNA barcodes, because it influences the pathways through which mitochondria are ...
Janzen, D H, Mark R. Shaw (167095), Packer , L, Julie K. Stahlhut (167104), Claudia Bertrand (167052), Dirk Steinke, Xin Zhou, Crosby, K, Yanwei Li (167076), Quicke Donald, Quicke, D, Eveleigh Eldon S., Monty Wood, Steinke Dirk, Stahlhut, J K, Katharine Hind, Fernandez-Triana, J, Shaw, Mark R, Winnie Hallwachs, Hind Katharine, Ratnasingham, S, Da-Wei Huang, Yanwei, L, Katharine Hind (167065), Julie K Stahlhut, Bertrand, C, Eldon S. Eveleigh (167054), Hind, K, Daniel H Janzen, Jason Gibbs (167056), Brian L Fisher, Fisher, B L, Cory Sheffield, Mehrdad Hajibabaei, James Whitfield (167108), Monty Wood (167110), Miller Scott E., Josephine Rodriguez, Brian L. Fisher (47870), Sujeevan Ratnasingham (167085), Kate Crosby, Donald Quicke, Wood Monty, Janda Milan, Jan Hrcek (167068), Huang Da-Wei, Ratnasingham Sujeevan, Gibbs, J, Hallwachs Winnie, Huang, D W, Rodriguez, J J, Kate Crosby (167053), Laurence Packer, Scott E. Miller (167079), Eldon S Eveleigh, Smith M. Alex, James Whitfield, Zhou, X, Scott E Miller, Zhou Xin, Rodolphe Rougerie (134289), Yanwei Li, Janda, M, Crosby Kate, Hrcek, J, Cory Sheffield (167100), Whitfield, J B, Jason Gibbs, Wood, M, M Alex Smith, Rodolphe Rougerie, Smith, M A, Sheffield Cory, Rougerie Rodolphe, Hallwachs, W, Donald Quicke (167083), Fisher Brian L., Sheffield, C, Jan Hrcek, Rodriguez Josephine, Mehrdad Hajibabaei (76205), Packer Laurence, Stahlhut Julie K., Whitfield James, M. Alex Smith (47871), Winnie Hallwachs (167061), Wood , M, Milan Janda, Bertrand Claudia, Gibbs Jason, Da-Wei Huang (102802), Miller, S E, Dirk Steinke (15543), Laurence Packer (167080), Mark R Shaw, Li Yanwei, Packer, L, Hajibabaei Mehrdad, Rougerie, R, Claudia Bertrand, Hrcek Jan, Sujeevan Ratnasingham, Daniel H. Janzen (167074), Fernandez-Triana Jose, Steinke, D, Jose Fernandez-Triana (167055), Milan Janda (167072), Josephine Rodriguez (167090), Hajibabaei, M, Xin Zhou (54275), Jose Fernandez-Triana, Janzen Daniel H., Shaw Mark R., Eveleigh, E S, Janda , M   +114 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source