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https://www.readbyqxmd.com/read/29691679/the-impact-of-next-generation-sequencing-on-the-diagnosis-of-pediatric-onset-hereditary-spastic-paraplegias-new-genotype-phenotype-correlations-for-rare-hsp-related-genes
#1
Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, Adele D'Amico, Viola Alesi, Andrea Ciolfi, Alessandro Bruselles, Michela Catteruccia, Simone Pizzi, Ginevra Zanni, Sara Loddo, Sabina Barresi, Gessica Vasco, Marco Tartaglia, Enrico Bertini, Francesco Nicita
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients showed that, by means of current technologies, the percentage of genetically solved cases is close to 50%. Notably, the percentage of molecularly confirmed diagnoses decreases significantly in sporadic patients. To describe our diagnostic molecular genetic approach on patients with pediatric-onset pure and complex HSP, 47 subjects with HSP underwent molecular screening of 113 known and candidate disease genes by targeted capture and massively parallel sequencing...
April 24, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29537828/thioaluminogermanate-m-als-2-ges-2-4-m-na-ag-cu-synthesis-crystal-structures-characterization-ion-exchange-and-solid-state-27-al-and-23-na-nmr-spectroscopy
#2
Fatimah Alahmari, Bambar Davaasuren, Abdul-Hamid Emwas, Alexander Rothenberger
The new thioaluminogermanate Na(AlS2 )(GeS2 )4 (1) was successfully synthesized by a direct combination reaction. The compound crystallizes in the monoclinic space group P21 / n (no. 14) with unit cell parameters a = 6.803(3) Å, b = 38.207(2) Å, c = 6.947(4) Å, and β = 119.17(3)°. The crystal structure is composed of a [(AlS2 )(GeS2 )4 ]- 3D polyanionic network, in which Al and Ge atoms share the atomic positions and Na cations occupy the channels and voids formed by the connection of (Ge/Al)S4 tetrahedra...
April 2, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29469808/rab5-and-alsin-regulate-stress-activated-cytoprotective-signaling-on-mitochondria
#3
FoSheng Hsu, Stephanie Spannl, Charles Ferguson, Anthony A Hyman, Robert G Parton, Marino Zerial
Mitochondrial stress response is essential for cell survival, and damaged mitochondria are a hallmark of neurodegenerative diseases. Thus, it is fundamental to understand how mitochondria relay information within the cell. Here, by investigating mitochondrial-endosomal contact sites we made the surprising observation that the small GTPase Rab5 translocates from early endosomes to mitochondria upon oxidative stress. This process is reversible and accompanied by an increase in Rab5-positive endosomes in contact with mitochondria...
February 22, 2018: ELife
https://www.readbyqxmd.com/read/29400714/haploinsufficiency-leads-to-neurodegeneration-in-c9orf72-als-ftd-human-induced-motor-neurons
#4
Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son, Xinmei Wen, Kassandra Kisler, Brent Wilkinson, Louise Menendez, Tohru Sugawara, Phillip Woolwine, Mickey Huang, Michael J Cowan, Brandon Ge, Nicole Koutsodendris, Kaitlin P Sandor, Jacob Komberg, Vamshidhar R Vangoor, Ketharini Senthilkumar, Valerie Hennes, Carina Seah, Amy R Nelson, Tze-Yuan Cheng, Shih-Jong J Lee, Paul R August, Jason A Chen, Nicholas Wisniewski, Victor Hanson-Smith, T Grant Belgard, Alice Zhang, Marcelo Coba, Chris Grunseich, Michael E Ward, Leonard H van den Berg, R Jeroen Pasterkamp, Davide Trotti, Berislav V Zlokovic, Justin K Ichida
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains unclear. Using human induced motor neurons (iMNs), we found that repeat-expanded C9ORF72 was haploinsufficient in ALS. We found that C9ORF72 interacted with endosomes and was required for normal vesicle trafficking and lysosomal biogenesis in motor neurons. Repeat expansion reduced C9ORF72 expression, triggering neurodegeneration through two mechanisms: accumulation of glutamate receptors, leading to excitotoxicity, and impaired clearance of neurotoxic dipeptide repeat proteins derived from the repeat expansion...
March 2018: Nature Medicine
https://www.readbyqxmd.com/read/28891518/temperature-effects-on-accommodative-processes-in-simulated-amyotrophic-lateral-sclerosis-in-the-physiological-range
#5
D I Stephanova, A Kossev
The present study investigates the temperature dependence of electrotonic potentials in mathematically-simulated myelinated axons with one of three increasingly-severe type of amyotrophic lateral sclerosis (ALS) pathology, termed as ALS1, ALS2 and ALS3, respectively, in the physiological range (30-37∘C). These potentials were elicited by long-lasting (100 ms) subthreshold polarizing current stimuli (±40% of the threshold). Numerical solutions were computed using our temperature-dependent multi-layered model...
2017: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/28502191/a-novel-mutation-in-als2-associated-with-severe-and-progressive-infantile-onset-of-spastic-paralysis
#6
Huma Tariq, Shahid Mukhtar, Sadaf Naz
Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of both patients. The obligate carriers were heterozygous for the mutation and other unaffected members were homozygous for the wild type allele...
March 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28303143/copy-number-variation-in-acetolactate-synthase-genes-of-thifensulfuron-methyl-resistant-alopecurus-aequalis-shortawn-foxtail-accessions-in-japan
#7
Satoshi Iwakami, Yoshiko Shimono, Yohei Manabe, Masaki Endo, Hiroyuki Shibaike, Akira Uchino, Tohru Tominaga
Severe infestations of Alopecurus aequalis (shortawn foxtail), a noxious weed in wheat and barley cropping systems in Japan, can occur even after application of thifensulfuron-methyl, a sulfonylurea (SU) herbicide. In the present study, nine accessions of A. aequalis growing in a single wheat field were tested for sensitivity to thifensulfuron-methyl. Seven of the nine accessions survived application of standard field rates of thifensulfuron-methyl, indicating that severe infestations likely result from herbicide resistance...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28215140/position-based-nucleotide-analysis-of-mir168-family-in-higher-plants-and-its-targets-in-mammalian-transcripts
#8
Mohammed Javed, Manish Solanki, Anshika Sinha, Lata I Shukla
BACKGROUND: miRNA are the post transcriptional regulator of the genes. The conserved miR168 family is evaluated for position based nucleotide preference in higher plants. Low density lipoprotein receptor adaptor protein 1 (LDLRAP1) target validated for miR168a obtained from rice origin is reported. METHODS: The mature miRNA sequences include miR168-5p and miR168-3p, were obtained from miRBase (v21, June 2014) for 15 families (28 plants). The preferred position based nucleotide sequences were obtained using Data Analysis in Molecular Biology and Evolution software...
August 16, 2017: MicroRNA
https://www.readbyqxmd.com/read/28187829/cross-resistance-patterns-to-acetolactate-synthase-als-inhibiting-herbicides-of-flixweed-descurainia-sophia-l-conferred-by-different-combinations-of-als-isozymes-with-a-pro-197-thr-mutation-or-a-novel-trp-574-leu-mutation
#9
Wei Deng, Qian Yang, Yongzhi Zhang, Hongtao Jiao, Yu Mei, Xuefeng Li, Mingqi Zheng
Acetolactate synthase (ALS) is the common target of ALS-inhibiting herbicides, and target-site ALS mutations are the main mechanism of resistance to ALS-inhibiting herbicides. In this study, ALS1 and ALS2 genes with full lengths of 2004bp and 1998bp respectively were cloned in individual plants of susceptible (S) or resistant (R) flixweed (Descurainia sophia L.) populations. Two ALS mutations of Pro-197-Thr and/or Trp-574-Leu were identified in plants of three R biotypes (HB24, HB30 and HB42). In order to investigate the function of ALS isozymes in ALS-inhibiting herbicide resistance, pHB24 (a Pro-197-Thr mutation in ALS1 and a wild type ALS2), pHB42 (a Trp-574-Leu mutation in ALS1 and a wild type ALS2) and pHB30 (a Trp-574-Leu mutation in ALS1 and a Pro-197-Thr mutation in ALS2) subpopulations individually homozygous for different ALS mutations were generated...
March 2017: Pesticide Biochemistry and Physiology
https://www.readbyqxmd.com/read/28160950/comprehensive-targeted-next-generation-sequencing-in-japanese-familial-amyotrophic-lateral-sclerosis
#10
Ayumi Nishiyama, Tetsuya Niihori, Hitoshi Warita, Rumiko Izumi, Tetsuya Akiyama, Masaaki Kato, Naoki Suzuki, Yoko Aoki, Masashi Aoki
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by loss of motor neurons. We have recently identified SOD1 and FUS mutations as the most common causes in a consecutive series of 111 familial ALS pedigrees in Japan. To reveal possible genetic causes for the remaining 51 patients with familial ALS (45 pedigrees), we performed targeted next-generation sequencing of 35 known ALS/motor neuron diseases-related genes. Known variants in ANG, OPTN, SETX, and TARDBP were identified in 6 patients...
May 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28100104/theoretical-predication-of-temperature-effects-on-accommodative-processes-in-simulated-amyotrophic-lateral-sclerosis-during-hypothermia-and-hyperthermia
#11
D I Stephanova, A Kossev
Electrotonic potentials allow the accommodative processes to long-lasting subthreshold polarizing stimuli to be assessed. The present study investigates such potentials in previously simulated cases of amyotrophic lateral sclerosis, termed as ALS1, ALS2 and ALS3, respectively, when the temperature is changed during hypothermia ([Formula: see text]C) and hyperthermia ([Formula: see text]C). The ALS cases are modeled as three progressively severe uniform axonal dysfunctions along the human motor nerve fiber which is simulated by our temperature-dependent multi-layered numerical model...
December 2016: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/27917343/a-new-bioinformatic-insight-into-the-associated-proteins-in-psychiatric-disorders
#12
Wenlong Zhao, Wenjing Yang, Shuanglin Zheng, Qiong Hu, Ping Qiu, Xinghua Huang, Xiaoqian Hong, Fenghua Lan
BACKGROUND: Psychiatric diseases severely affect the quality of patients' lives and bring huge economic pressure to their families. Also, the great phenotypic variability among these patients makes it difficult to investigate the pathogenesis. Nowadays, bioinformatics is hopeful to be used as an effective tool for the diagnosis of psychiatric disorders, which can identify sensitive biomarkers and explore associated signaling pathways. METHODS: In this study, we performed an integrated bioinformatic analysis on 1945 mental-associated proteins including 91 secreted proteins and 593 membrane proteins, which were screened from the Universal Protein Resource (Uniport) database...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27601211/hereditary-spastic-paraplegias-identification-of-a-novel-spg57-variant-affecting-tfg-oligomerization-and-description-of-hsp-subtypes-in-sudan
#13
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-Sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27439389/functional-links-between-sqstm1-and-als2-in-the-pathogenesis-of-als-cumulative-impact-on-the-protection-against-mutant-sod1-mediated-motor-dysfunction-in-mice
#14
Shinji Hadano, Shun Mitsui, Lei Pan, Asako Otomo, Mizuki Kubo, Kai Sato, Suzuka Ono, Wakana Onodera, Koichiro Abe, XuePing Chen, Masato Koike, Yasuo Uchiyama, Masashi Aoki, Eiji Warabi, Masayuki Yamamoto, Tetsuro Ishii, Toru Yanagawa, Hui-Fang Shang, Fumihito Yoshii
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by a selective loss of motor neurons in the brain and spinal cord. Multiple toxicity pathways, such as oxidative stress, misfolded protein accumulation, and dysfunctional autophagy, are implicated in the pathogenesis of ALS. However, the molecular basis of the interplay between such multiple factors in vivo remains unclear. Here, we report that two independent ALS-linked autophagy-associated gene products; SQSTM1/p62 and ALS2/alsin, but not antioxidant-related factor; NFE2L2/Nrf2, are implicated in the pathogenesis in mutant SOD1 transgenic ALS models...
August 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27389830/theoretical-predication-of-temperature-effect-on-conducting-processes-in-simulated-amyotrophic-lateral-sclerosis-at-20-40-formula-see-text-c
#15
D I Stephanova, A Kossev
The present study investigates action potential abnormalities in previously simulated cases of amyotrophic lateral sclerosis, termed as ALS1, ALS2 and ALS3, respectively, when the temperature is changed from 20[Formula: see text]C to 42[Formula: see text]C. These ALS cases are modeled as three progressively severe axonal abnormalities. The effects of temperature on the kinetics of currents, defining action potentials in the normal and abnormal cases, are also given and discussed. These computations use our temperature-dependent multi-layered model of human motor nerve fibers...
June 2016: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/27324898/protein-profile-and-morphological-alterations-in-penumbra-after-focal-photothrombotic-infarction-in-the-rat-cerebral-cortex
#16
Anatoly Uzdensky, Svetlana Demyanenko, Grigory Fedorenko, Tayana Lapteva, Alexej Fedorenko
After ischemic stroke, cell damage propagates from infarct core to surrounding tissues (penumbra). To reveal proteins involved in neurodegeneration and neuroprotection in penumbra, we studied protein expression changes in 2-mm ring around the core of photothrombotic infarct induced in the rat brain cortex by local laser irradiation after administration of Bengal Rose. The ultrastructural study showed edema and degeneration of neurons, glia, and capillaries. Morphological changes gradually decreased across the penumbra...
August 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/26972116/mutations-in-fus-are-the-most-frequent-genetic-cause-in-juvenile-sporadic-als-patients-of-chinese-origin
#17
Zhang-Yu Zou, Ming-Sheng Liu, Xiao-Guang Li, Li-Ying Cui
Juvenile onset ALS is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age. Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11) genes have been associated with familial ALS with juvenile onset and slow progression, whereas the genetic architecture of sporadic juvenile ALS remains unclear. We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1 in 16 juvenile sporadic ALS patients. Four cases (25%) carrying FUS mutations and one individual (6%) harbouring a SOD1 mutation were identified...
2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/26601740/identification-of-mutations-in-korean-patients-with-amyotrophic-lateral-sclerosis-using-multigene-panel-testing
#18
Hee-Jung Kim, Ki-Wook Oh, Min-Jung Kwon, Seong-il Oh, Jin-Seok Park, Young-Eun Kim, Byung-Ok Choi, Seungbok Lee, Chang-Seok Ki, Seung Hyun Kim
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease involving motor neurons. Because a growing number of genes have been identified as the genetic etiology of ALS, simultaneous screening of mutations in multiple genes is likely to be more efficient than gene-by-gene testing. In this study, we performed a multigene panel testing by using targeted capture of 18 ALS-related genes followed by next-generation sequencing. Using this technique, we tried to identify mutations in 4 index patients with familial ALS and 148 sporadic ALS in Korean population and identified 4 known mutations in SOD1, ALS2, MAPT, and SQSTM1 genes, respectively, and 28 variants of uncertain significance in 9 genes...
January 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/26269544/targeted-mutagenesis-precise-gene-editing-and-site-specific-gene-insertion-in-maize-using-cas9-and-guide-rna
#19
Sergei Svitashev, Joshua K Young, Christine Schwartz, Huirong Gao, S Carl Falco, A Mark Cigan
Targeted mutagenesis, editing of endogenous maize (Zea mays) genes, and site-specific insertion of a trait gene using clustered regularly interspaced short palindromic repeats (CRISPR)-associated (Cas)-guide RNA technology are reported in maize. DNA vectors expressing maize codon-optimized Streptococcus pyogenes Cas9 endonuclease and single guide RNAs were cointroduced with or without DNA repair templates into maize immature embryos by biolistic transformation targeting five different genomic regions: upstream of the liguleless1 (LIG1) gene, male fertility genes (Ms26 and Ms45), and acetolactate synthase (ALS) genes (ALS1 and ALS2)...
October 2015: Plant Physiology
https://www.readbyqxmd.com/read/26097132/genetic-basis-evolutionary-origin-and-spread-of-resistance-to-herbicides-inhibiting-acetolactate-synthase-in-common-groundsel-senecio-vulgaris
#20
Christophe Délye, Romain Causse, Séverine Michel
BACKGROUND: Following control failure by herbicides inhibiting acetolactate synthase (ALS) in French wheat fields and vineyards, we aimed to confirm resistance evolution and investigate the evolutionary origin and spread of resistance in the tetraploid species Senecio vulgaris (common groundsel), a widespread, highly mobile weed. RESULTS: Sequencing of two ALS homeologues in S. vulgaris enabled the first identification and characterisation of ALS-based resistance in this species...
January 2016: Pest Management Science
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