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https://www.readbyqxmd.com/read/27847565/proteomic-analysis-of-a-rat-cerebral-ischemic-injury-model-after-human-cerebral-endothelial-cell-transplantation
#1
Tae-Min Choi, Misun Yun, Jung-Kil Lee, Jong-Tae Park, Man-Seok Park, Hyung-Seok Kim
OBJECTIVE: Cerebral endothelial cells have unique biological features and are fascinating candidate cells for stroke therapy. METHODS: In order to understand the molecular mechanisms of human cerebral endothelial cell (hCMEC/D3) transplantation in a rat stroke model, we performed proteomic analysis using 2-dimensional electrophoresis and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Protein expression was confirmed by quantitative real-time PCR and Western blot...
November 2016: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/27790088/rare-variants-in-neurodegeneration-associated-genes-revealed-by-targeted-panel-sequencing-in-a-german-als-cohort
#2
Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Ludger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential degeneration of upper and lower motor neurons. To further delineate the genetic architecture of the disease, we used comprehensive panel sequencing in a cohort of 80 German ALS patients. The panel covered 39 confirmed ALS genes and candidate genes, as well as 238 genes associated with other entities of the neurodegenerative disease spectrum. In addition, we performed repeat length analysis for C9orf72...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27609023/a-19-gene-expression-signature-as-a-predictor-of-survival-in-colorectal-cancer
#3
Nurul Ainin Abdul Aziz, Norfilza M Mokhtar, Roslan Harun, Md Manir Hossain Mollah, Isa Mohamed Rose, Ismail Sagap, Azmi Mohd Tamil, Wan Zurinah Wan Ngah, Rahman Jamal
BACKGROUND: Histopathological assessment has a low potential to predict clinical outcome in patients with the same stage of colorectal cancer. More specific and sensitive biomarkers to determine patients' survival are needed. We aimed to determine gene expression signatures as reliable prognostic marker that could predict survival of colorectal cancer patients with Dukes' B and C. METHODS: We examined microarray gene expression profiles of 78 archived tissues of patients with Dukes' B and C using the Illumina DASL assay...
2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27557734/spg7-and-impaired-emotional-communication
#4
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa
The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene. One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c...
August 24, 2016: Cerebellum
https://www.readbyqxmd.com/read/27544499/severe-axonal-neuropathy-is-a-late-manifestation-of-spg11
#5
Andreea Manole, Viorica Chelban, Nourelhoda A Haridy, Sherifa A Hamed, Andrés Berardo, Mary M Reilly, Henry Houlden
Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of disorders usually inherited in an autosomal recessive manner. In the past, complex recessive spastic paraplegias have been frequently associated with SPG11 mutations but also with defects in SPG15, SPG7 and a handful of other rare genes. Pleiotropy exists in HSP genes, exemplified in the recent association of SPG11 mutations with CMT2. In this study, we performed whole exome sequence analysis and identified two siblings with novel compound heterozygous frameshift SPG11 mutations...
November 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27476418/movement-disorders-in-mitochondrial-diseases
#6
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27406698/wes-in-a-family-trio-suggests-involvement-of-tecpr2-in-a-complex-form-of-progressive-motor-neuron-disease
#7
A E Covone, C Fiorillo, M Acquaviva, F Trucco, G Morana, R Ravazzolo, C Minetti
We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode of inheritance. The TECPR2 gene has been reported as a positive regulator of autophagy which is an essential mechanism for maintaining neuron homeostasis and survival and plays a key role in major adult and pediatric neurodegenerative diseases...
August 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27260292/a-series-of-greek-children-with-pure-hereditary-spastic-paraplegia-clinical-features-and-genetic-findings
#8
Alexandros A Polymeris, Alessandra Tessa, Katherine Anagnostopoulou, Anna Rubegni, Daniele Galatolo, Argirios Dinopoulos, Artemis D Gika, Sotiris Youroukos, Eleni Skouteli, Filippo M Santorelli, Roser Pons
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. Adult case series dominate the literature, and there have been only a few studies in children. The purpose of this study is to describe our experience with pediatric HSP in Greece. We report the clinical and genetic findings in our patients and aim to offer insights into the diagnostic difficulties of childhood-onset disease...
August 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27217339/genetic-and-phenotypic-characterization-of-complex-hereditary-spastic-paraplegia
#9
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P Bhatia, L V Prasad Korlipara, Andrew B Singleton, John Hardy, Nicholas W Wood, Patrick A Lewis, Henry Houlden
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15, SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined...
July 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27165196/the-microrna-224-inhibitor-prevents-neuronal-apoptosis-via-targeting-spastic-paraplegia-7-after-cerebral-ischemia
#10
Feng Fu, Dingfeng Wu, Chao Qian
Recently, the study of microRNA expression profile has shown that miR-224 was implicated in neuron injury, but the mechanism of miR-224 on regulating neuronal apoptosis is completely unclear until now. Therefore, the current study aims to illuminate the miR-224 and its target gene on the modulation of neuronal cell apoptosis induced by ischemic injury. In this study, we used oxygen/glucose deprivation (OGD)-induced human-derived HCN-2 cells to establish the model of cerebral ischemia injury. We found that miR-224 was upregulated in injured cells (human brain cortical neuron)...
July 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27164068/in-silico-investigation-of-traditional-chinese-medicine-for-potential-lead-compounds-as-spg7-inhibitors-against-coronary-artery-disease
#11
Kuen-Bao Chen, Kuan-Chung Chen, Ya-Lin Chang, Kun-Lung Chang, Pei-Chun Chang, Tung-Ti Chang, Yu-Chian Chen
Coronary artery disease (CAD) is the most common cause of heart attack and the leading cause of mortality in the world. It is associated with mitochondrial dysfunction and increased level of reactive oxygen species production. According to the Ottawa Heart Genomics Study genome-wide association study, a recent research identified that Q688 spastic paraplegia 7 (SPG7) variant is associated with CAD as it bypasses the regulation of tyrosine phosphorylation of AFG3L2 and enhances the processing and maturation of SPG7 protein...
2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27123479/compound-heterozygote-mutations-in-spg7-in-a-family-with-adult-onset-primary-lateral-sclerosis
#12
Yi Yang, Lei Zhang, David R Lynch, Thomas Lukas, Kreshnik Ahmeti, Patrick M A Sleiman, Eanna Ryan, Kimberly A Schadt, Jordan H Newman, Han-Xiang Deng, Nailah Siddique, Teepu Siddique
OBJECTIVE: To identify the genetic defect for adult-onset primary lateral sclerosis (PLS) in a family with 5 patients. METHODS: Whole-exome sequencing was performed to identify the shared genetic variants in 3 affected members in a PLS family with 5 affected individuals. Sanger sequencing was used for validation of the variants and for cosegregation analysis. Mitochondrial activity for both patients and unaffected siblings was measured using a SeaHorse metabolic analyzer...
April 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27084228/genetic-background-of-the-hereditary-spastic-paraplegia-phenotypes-in-hungary-an-analysis-of-58-probands
#13
Peter Balicza, Zoltan Grosz, Michael A Gonzalez, Renata Bencsik, Klara Pentelenyi, Aniko Gal, Edina Varga, Peter Klivenyi, Julia Koller, Stephan Züchner, Judit Maria Molnar
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for the known HSP causing genes. METHODS: We carried out genetic testing for 58 probands with clinical characteristics of HSP...
May 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27066542/phenotypic-and-molecular-analyses-of-primary-lateral-sclerosis
#14
Hiroshi Mitsumoto, Peter L Nagy, Chris Gennings, Jennifer Murphy, Howard Andrews, Raymond Goetz, Mary Kay Floeter, Jonathan Hupf, Jessica Singleton, Richard J Barohn, Sharon Nations, Christen Shoesmith, Edward Kasarskis, Pam Factor-Litvak
OBJECTIVE: To understand phenotypic and molecular characteristics of patients with clinically "definite" primary lateral sclerosis (PLS) in a prospective study. METHODS: Six sites enrolled 41 patients who had pure upper motor neuron dysfunction, bulbar symptoms, a normal EMG done within 12 months of enrollment, and onset of symptoms ≥5 years before enrollment. For phenotypic analyses, 27 demographic, clinical, and cognitive variables were analyzed using the k-means clustering method...
June 2015: Neurol Genet
https://www.readbyqxmd.com/read/26902508/the-mitochondrial-permeability-transition-pore-in-ad-2016-an-update
#15
Lucia Biasutto, Michele Azzolini, Ildikò Szabò, Mario Zoratti
Over the past 30years the mitochondrial permeability transition - the permeabilization of the inner mitochondrial membrane due to the opening of a wide pore - has progressed from being considered a curious artifact induced in isolated mitochondria by Ca(2+) and phosphate to a key cell-death-inducing process in several major pathologies. Its relevance is by now universally acknowledged and a pharmacology targeting the phenomenon is being developed. The molecular nature of the pore remains to this day uncertain, but progress has recently been made with the identification of the FOF1 ATP synthase as the probable proteic substrate...
October 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/26626314/spg7-mutations-explain-a-significant-proportion-of-french-canadian-spastic-ataxia-cases
#16
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau, Kym M Boycott, Jacek Majewski, Bernard Brais
Hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 cause the autosomal recessive spastic paraplegia type 7 (SPG7), but recent studies indicate that they are also one of the most common causes of recessive cerebellar ataxia. In Quebec, a significant number of patients affected with cerebellar ataxia and spasticity remain without a molecular diagnosis. We performed whole-exome sequencing in three French Canadian (FC) patients affected with spastic ataxia and uncovered compound heterozygous variants in SPG7 in all three...
July 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26581158/commentary-spg7-is-an-essential-and-conserved-component-of-the-mitochondrial-permeability-transition-pore
#17
Paolo Bernardi, Michael Forte
No abstract text is available yet for this article.
2015: Frontiers in Physiology
https://www.readbyqxmd.com/read/26556829/als5-spg11-kiaa1840-mutations-cause-autosomal-recessive-axonal-charcot-marie-tooth-disease
#18
Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H St George-Hyslop, Orlando G P Barsottini, Toshitaka Kawarai, Antonio Orlacchio
Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis...
January 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26539208/a-novel-mutation-of-afg3l2-might-cause-dominant-optic-atrophy-in-patients-with-mild-intellectual-disability
#19
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae structure and mitochondrial genome maintenance. OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28. Here, we identified a novel mutation c...
2015: Frontiers in Genetics
https://www.readbyqxmd.com/read/26506339/abnormal-paraplegin-expression-in-swollen-neurites-%C3%AF-and-%C3%AE-synuclein-pathology-in-a-case-of-hereditary-spastic-paraplegia-spg7-with-an-ala510val-mutation
#20
Dietmar R Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik
Mutations in the SPG7 gene are the most frequent cause of autosomal recessive hereditary spastic paraplegias and spastic ataxias. Ala510Val is the most common SPG7 mutation, with a frequency of up to 1% in the general population. Here we report the clinical, genetic, and neuropathological findings in a homozygous Ala510Val SPG7 case with spastic ataxia. Neuron loss with associated gliosis was found in the inferior olivary nucleus, the dentate nucleus of the cerebellum, the substantia nigra and the basal nucleus of Meynert...
October 21, 2015: International Journal of Molecular Sciences
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