Results 61 to 70 of about 133,000 (265)

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

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

, 1992
A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye.
Inana, G, Weleber, R G, Murakami, A, Shiono, T, Kennaway, N G, Clarke, L, Mashima, Y   +6 more
core   +4 more sources

CONTEXT EFFECTS ON NONSENSE CODON SUPPRESSION IN ESCHERICHIA COLI [PDF]

Genetics, 1978
ABSTRACT The influence of mRNA context on nonsense codon suppression has been studied by suppression measurements at one site in the Escherichia coli trpE gene and at two sites in the trpA gene. The ratio of suppression efficiencies of amber and ochre codons at each site (homotopic pairs) has been compared using ochre suppressing ...
S I, Feinstein, S, Altman
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations

Nature Communications
Nonsense mutations – the underlying cause of approximately 11% of all genetic diseases – prematurely terminate protein synthesis by mutating a sense codon to a premature stop or termination codon (PTC).
Nikhil Bharti, Leonardo Santos, Marcos Davyt, Stine Behrmann, Marie Eichholtz, Alejandro Jimenez-Sanchez, Jeong S. Hong, Andras Rab, Eric J. Sorscher, Suki Albers, Zoya Ignatova   +10 more
doaj   +1 more source

A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay. [PDF]

PLoS ONE, 2017
The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing premature termination codons, limiting the expression of potentially deleterious truncated proteins.
Stacey L Baker, J Robert Hogg
doaj   +1 more source

Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs [PDF]

Nucleic Acids Research, 2001
Translational stop codon readthrough provides a regulatory mechanism of gene expression that is extensively utilised by positive-sense ssRNA viruses. The misreading of termination codons is achieved by a variety of naturally occurring suppressor tRNAs whose structure and function is the subject of this survey.
H, Beier, M, Grimm
openaire   +2 more sources

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Site-Specific Incorporation of Unnatural Amino Acids into Escherichia coli Recombinant Protein: Methodology Development and Recent Achievement

Biomolecules, 2019
More than two decades ago a general method to genetically encode noncanonical or unnatural amino acids (NAAs) with diverse physical, chemical, or biological properties in bacteria, yeast, animals and mammalian cells was developed. More than 200 NAAs have
Sviatlana Smolskaya, Yaroslav A. Andreev   +1 more
doaj   +1 more source

Readthrough of premature termination codons in the adenomatous polyposis coli gene restores its biological activity in human cancer cells. [PDF]

PLoS ONE, 2011
The APC tumor suppressor gene is frequently mutated in human colorectal cancer, with nonsense mutations accounting for 30% of all mutations in this gene.
Célia Floquet, Jean-Pierre Rousset, Laure Bidou   +2 more
doaj   +1 more source