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Mosaic structural variation in children with developmental disorders

15.05.2015 | Daniel A. King; Wendy D. Jones; Yanick J. Crow; Anna F. Dominiczak; Nicola A. Foster; Tom R. Gaunt; Jade Harris; Ste ..., Human Molecular Genetics, 2015

Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in 0.2–1.0% of children ascertained for ...

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Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

15.05.2015 | Luke E. Formosa; Masakazu Mimaki; Ann E. Frazier; Matthew McKenzie; Tegan L. Stait; David R. Thorburn; David A. Stro ..., Human Molecular Genetics, 2015

Human mitochondrial complex I is the largest enzyme of the respiratory chain and is composed of 44 different subunits. Complex I subunits are encoded by both nuclear and mitochondrial (mt) DNA and their assembly requires a number of additional proteins. FAD-dependent oxidoreductase ...

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The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

15.05.2015 | Florin Sasarman; Isabelle Thiffault; Woranontee Weraarpachai; Steven Salomon; Catalina Maftei; Julie Gauthier; Benja ..., Human Molecular Genetics, 2015

Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochondria. Exome sequencing revealed TRNT1 mutations ...

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Impact of sulfation pattern on the conformation and dynamics of sulfated fucan oligosaccharides as revealed by NMR and MD

01.05.2015 | Ismael NL Queiroz; Xiaocong Wang; John N Glushka; Gustavo RC Santos; Ana P Valente; James H Prestegard; Robert J Woo ..., Glycobiology , 2015

Sulfated fucans from sea urchin egg jelly express well-defined chemical structures that vary with species. This species specificity regulates the sperm acrosome reaction, a critical step to assure intra-specific fertilization. In addition, these polysaccharides are involved in other biological ...

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Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

01.05.2015 | Meagan R. Pitcher; José A. Herrera; Shelly A. Buffington; Mikhail Y. Kochukov; Jonathan K. Merritt; Amanda R. Fisher ..., Human Molecular Genetics, 2015

Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome ...

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Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease

01.05.2015 | Jing Jin; Qi Peng; Zhipeng Hou; Mali Jiang; Xin Wang; Abraham J. Langseth; Michael Tao; Peter B. Barker; Susumu Mori ..., Human Molecular Genetics, 2015

White matter abnormalities have been reported in premanifest Huntington's disease (HD) subjects before overt striatal neuronal loss, but whether the white matter changes represent a necessary step towards further pathology and the underlying mechanism of these changes remains unknown. Here, we ...

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ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1

01.05.2015 | Kathleen M. Gilpin; Lydia Chang; Mervyn J. Monteiro, Human Molecular Genetics, 2015

Amyotrophic lateral sclerosis (ALS)-linked mutations in UBQLN2 and some members of the heterogeneous nuclear ribonucleoproteins (hnRNPs) family cause ALS. Most mutations in UBQLN2 are missense mutations that occur in and around a PXX repeat motif located in the central domain of the encoded ...

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Origin and Evolution of Water Oxidation before the Last Common Ancestor of the Cyanobacteria

01.05.2015 | Tanai Cardona; James W. Murray; A. William Rutherford, Molecular Biology and Evolution, 2015

Photosystem II, the water oxidizing enzyme, altered the course of evolution by filling the atmosphere with oxygen. Here, we reconstruct the origin and evolution of water oxidation at an unprecedented level of detail by studying the phylogeny of all D1 subunits, the main protein coordinating the ...

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miRNA-558 promotes tumorigenesis and aggressiveness of neuroblastoma cells through activating the transcription of heparanase

01.05.2015 | Hongxia Qu; Liduan Zheng; Jiarui Pu; Hong Mei; Xuan Xiang; Xiang Zhao; Dan Li; Shiwang Li; Ling Mao; Kai Huang; Qian ..., Human Molecular Genetics, 2015

Heparanase (HPSE) is the endogenous endoglycosidase that degrades heparan sulfate proteoglycans and promotes the tumor growth, invasion, metastasis and angiogenesis. Our previous studies have shown that HPSE is highly expressed in neuroblastoma (NB), the most common extracranial solid tumor in ...

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Caspase-11 Plays an Essential Role in Methamphetamine-Induced Dopaminergic Neuron Apoptosis

01.05.2015 | Weiye Huang; Wei-Bing Xie; Dongfang Qiao; Pingming Qiu; Enping Huang; Bing Li; Chuanxiang Chen; Chao Liu; Qi Wang; Z ..., Toxicological Sciences, 2015

Methamphetamine (METH) is an extremely addictive stimulant drug that is widely used with high potential of abuse. Previous studies have shown that METH exposure damages the nervous system, especially dopaminergic neurons. However, the exact molecular mechanisms of METH-induced neurotoxicity ...

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