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https://www.readbyqxmd.com/read/28527629/p62-sequestosome-1-knockout-delays-neurodegeneration-induced-by-drp1-loss
#1
Tatsuya Yamada, Yoshihiro Adachi, Toru Yanagawa, Miho Iijima, Hiromi Sesaki
Purkinje neurons, one of the largest neurons in the brain, are critical for controlling body movements, and the dysfunction and degeneration of these cells cause ataxia. Purkinje neurons require a very efficient energy supply from mitochondria because of their large size and extensive dendritic arbors. We have previously shown that mitochondrial division mediated by dynamin-related protein 1 (Drp1) is critical for the development and survival of Purkinje neurons. Drp1 deficiency has been associated with one of the major types of ataxia: autosomal recessive spastic ataxia of Charlevoix Saguenay...
May 17, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28525545/gene-co-expression-network-analysis-for-identifying-modules-and-functionally-enriched-pathways-in-sca2
#2
Lance T Pflieger, Warunee Dansithong, Sharan Paul, Daniel Scoles, Karla P Figueroa, Pratap Meera, Thomas S Otis, Julio C Facelli, Stefan M Pulst
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene. The repeat resides in an encoded region of the gene resulting in polyglutamine (polyQ) expansion which has been assumed to result in gain of function, predominantly, for the ATXN2 protein. We evaluated temporal cerebellar expression profiles by RNA sequencing of ATXN2Q127 mice vs wildtype littermates. ATXN2Q127 mice are characterized by a progressive motor phenotype onset, and have progressive cerebellar molecular and neurophysiological (Purkinje cell firing frequency) phenotypes...
May 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28521290/mir-2964a-5p-binding-site-snp-regulates-atm-expression-contributing-to-age-related-cataract-risk
#3
Han Rong, Shanshan Gu, Guowei Zhang, Lihua Kang, Mei Yang, Junfang Zhang, Xinyue Shen, Huaijin Guan
This study was to explore the involvement of DNA repair genes in the pathogenesis of age-related cataract (ARC). We genotyped nine single nucleotide polymorphisms (SNPs) of genes responsible to DNA double strand breaks (DSBs) in 804 ARC cases and 804 controls in a cohort of eye diseases in Chinese population and found that the ataxia telangiectasia mutated (ATM) gene-rs4585:G>T was significantly associated with ARC risk. An in vitro functional test found that miR-2964a-5p specifically down-regulated luciferase reporter expression and ATM expression in the cell lines transfected with rs4585 T allele compared to rs4585 G allele...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28520619/late-efavirenz-induced-ataxia-and-encephalopathy-a-case-series
#4
Ebrahim Variava, Farai R Sigauke, Jennifer Norman, Modiehi Rakgokong, Petudzai Muchichwa, Andre Mochan, Gary Maartens, Neil A Martinson
BACKGROUND: WHO treatment guidelines recommend efavirenz in first line antiretroviral therapy (ART). Efavirenz commonly causes early transient neuro-psychiatric adverse events. We present 20 cases with severe encephalopathy accompanied by ataxia due to efavirenz toxicity METHODS:: Consecutive HIV-infected adults taking efavirenz-containing ART admitted to Tshepong hospital, Klerksdorp, South Africa with ataxia and encephalopathy were included in this case series. RESULTS: We identified 20 women admitted to hospital with severe ataxia...
May 17, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28518055/a-positive-feedback-loop-linking-enhanced-mglur-function-and-basal-calcium-in-spinocerebellar-ataxia-type-2
#5
Pratap Meera, Stefan Pulst, Thomas Otis
Metabotropic glutamate receptor 1 (mGluR1) function in Purkinje neurons (PNs) is essential for cerebellar development and for motor learning and altered mGluR1 signaling causes ataxia. Downstream of mGluR1, dysregulation of calcium homeostasis has been hypothesized as a key pathological event in genetic forms of ataxia but the underlying mechanisms remain unclear. We find in a spinocerebellar ataxia type 2 (SCA2) mouse model that calcium homeostasis in PNs is disturbed across a broad range of physiological conditions...
May 18, 2017: ELife
https://www.readbyqxmd.com/read/28516904/lhx1-5-control-dendritogenesis-and-spine-morphogenesis-of-purkinje-cells-via-regulation-of-espin
#6
Nga Chu Lui, Wing Yip Tam, Caiji Gao, Jian-Dong Huang, Chi Chiu Wang, Liwen Jiang, Wing Ho Yung, Kin Ming Kwan
In the cerebellar cortex, Purkinje cells (PCs) receive signals from different inputs through their extensively branched dendrites and serve as an integration centre. Defects in the dendritic development of PCs thus disrupt cerebellar circuitry and cause ataxia. Here we report that specific inactivation of both Lhx1 and Lhx5 in postnatal PCs results in ataxic mutant mice with abnormal dendritic development. The PCs in the mutants have reduced expression of Espin, an F-actin cytoskeleton regulator. We show that Espin expression is transcriptionally activated by Lhx1/5...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28515935/methotrexate-encephalopathy-two-cases-in-adult-cancer-patients-who-recovered-with-pathophysiologically-based-therapy
#7
Shodeinde A Coker, David A Pastel, Melissa C Davis, Elizabeth M Bengtson, Camilo E Fadul, Lionel D Lewis
BACKGROUND/OBJECTIVES: Neurotoxicity is a serious and sometimes fatal adverse effect that can occur following methotrexate treatment. We describe two adult patients with hematological malignancies with methotrexate encephalopathy who recovered with dextromethorphan therapy. RESULTS: Case 1: A 24-year-old male with acute lymphoblastic leukemia developed the acute onset of bilateral facial weakness and slurred speech after his first treatment with high-dose intravenous methotrexate...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#8
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28515564/delayed-stevens-johnson-syndrome-secondary-to-the-use-of-lamotrigine-in-bipolar-mood-disorder
#9
Kunal Kishor Jha, Durgesh Prasad Chaudhary, Tshristi Rijal, Semanta Dahal
Lamotrigine is a mood-stabilizing drug used in maintenance treatment of bipolar I disease. There are adverse effects with lamotrigine such as a headache, blurred vision, diplopia, somnolence, ataxia, dizziness, rash, Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis. SJS is a life-threatening, blistering mucocutaneous disease. SJS is characterized by the presence of flat, diffuse erythematous maculopapular rashes with the involvement of <10% of the body surface area. Standard trigger is drugs including anticonvulsants, antibiotics, and Mycoplasma pneumoniae infection...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28515524/spinal-anaesthesia-for-a-caesarean-section-in-a-patient-with-paraneoplastic-cerebellar-ataxia
#10
Ayca Tas Tuna, Fatih Sahin, Dilcan Kotan, Ali Fuat Erdem, Meltem Baykara, Tuba Duzcan
Paraneoplastic cerebellar ataxia (PCA) is most frequently observed in gynaecological cancers, small cell lung cancer, breast cancer, Hodgkin's lymphoma, cancer testis or malignant thymoma. In the literature, there is no data related to the effects of PCA during pregnancy or reports on the effects of anaesthesia in patients with PCA. We present management of a pregnant woman with PCA who was suddenly unable to walk with PCA and for whom effective spinal anaesthesia was performed for an elective caesarean section with no complications...
April 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28510727/alternative-splicing-in-the-c-terminal-tail-of-cav2-1-is-essential-for-preventing-a-neurological-disease-in-mice
#11
Tomonori Aikawa, Takaki Watanabe, Taisuke Miyazaki, Takayasu Mikuni, Minoru Wakamori, Miyano Sakurai, Hidenori Aizawa, Nobutaka Ishizu, Masahiko Watanabe, Masanobu Kano, Hidehiro Mizusawa, Kei Watase
Alternative splicing (AS) that occurs at the final coding exon (exon 47) of the Cav2.1 voltage-gated calcium channel (VGCC) gene produces two major isoforms in the brain, MPI and MPc. These isoforms differ in their splice acceptor sites; human MPI is translated into a polyglutamine tract associated with spinocerebellar ataxia type 6 (SCA6), whereas MPc splices to an immediate stop codon, resulting in a shorter cytoplasmic tail.To gain insight into the functional role of the AS in vivo and whether modulating the splice patterns at this locus can be a potential therapeutic strategy for SCA6, here we created knockin mice that exclusively express MPc by inserting the splice-site mutation...
May 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28508964/tmem67-mutations-found-in-a-case-of-joubert-syndrome-with-renal-hypodysplasia
#12
Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kunimasa Yan
Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28508084/clinicopathologic-and-molecular-spectrum-of-rnaseh1-related-mitochondrial-disease
#13
Enrico Bugiardini, Olivia V Poole, Andreea Manole, Alan M Pittman, Alejandro Horga, Iain Hargreaves, Cathy E Woodward, Mary G Sweeney, Janice L Holton, Jan-Willem Taanman, Gordon T Plant, Joanna Poulton, Massimo Zeviani, Daniele Ghezzi, John Taylor, Conrad Smith, Carl Fratter, Meena A Kanikannan, Arumugam Paramasivam, Kumarasamy Thangaraj, Antonella Spinazzola, Ian J Holt, Henry Houlden, Michael G Hanna, Robert D S Pitceathly
OBJECTIVE: Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitochondrial disease and establish clinically meaningful genotype-phenotype correlations. METHODS: RNASEH1 was analyzed in patients with (1) multiple deletions/depletion of muscle mtDNA and (2) mendelian progressive external ophthalmoplegia (PEO) with neuropathologic evidence of mitochondrial dysfunction, but no detectable multiple deletions/depletion of muscle mtDNA...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28508083/structures-of-closed-and-open-conformations-of-dimeric-human-atm
#14
Domagoj Baretić, Hannah K Pollard, David I Fisher, Christopher M Johnson, Balaji Santhanam, Caroline M Truman, Tomas Kouba, Alan R Fersht, Christopher Phillips, Roger L Williams
ATM (ataxia-telangiectasia mutated) is a phosphatidylinositol 3-kinase-related protein kinase (PIKK) best known for its role in DNA damage response. ATM also functions in oxidative stress response, insulin signaling, and neurogenesis. Our electron cryomicroscopy (cryo-EM) suggests that human ATM is in a dynamic equilibrium between closed and open dimers. In the closed state, the PIKK regulatory domain blocks the peptide substrate-binding site, suggesting that this conformation may represent an inactive or basally active enzyme...
May 2017: Science Advances
https://www.readbyqxmd.com/read/28507511/distribution-of-elovl4-in-the-developing-and-adult-mouse-brain
#15
David M Sherry, Blake R Hopiavuori, Megan A Stiles, Negar S Rahman, Kathryn G Ozan, Ferenc Deak, Martin-Paul Agbaga, Robert E Anderson
ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28507315/the-herpesvirus-nuclear-egress-complex-component-ul31-can-be-recruited-to-sites-of-dna-damage-through-poly-adp-ribose-binding
#16
Maxwell R Sherry, Thomas J M Hay, Michael A Gulak, Arash Nassiri, Renée L Finnen, Bruce W Banfield
The herpes simplex virus (HSV) UL31 gene encodes a conserved member of the herpesvirus nuclear egress complex that not only functions in the egress of DNA containing capsids from the nucleus, but is also required for optimal replication of viral DNA and its packaging into capsids. Here we report that the UL31 protein from HSV-2 can be recruited to sites of DNA damage by sequences found in its N-terminus. The N-terminus of UL31 contains sequences resembling a poly (ADP-ribose) (PAR) binding motif suggesting that PAR interactions might mediate UL31 recruitment to damaged DNA...
May 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28505539/revisiting-bilateral-thalamotomy-for-tremor
#17
REVIEW
Jumana Alshaikh, Paul S Fishman
MRI guided focused ultrasound surgery (MRgFUS) has been FDA approved for unilateral treatment of essential tremor (ET). Before this non-incisional lesioning method can be applied to the treatment of both hemispheres the previous experience with bilateral thalamic ablation must be addressed. In particular, the high incidence of worsening of speech and balance associated with bilateral surgical thalamotomy, a rationale for the development of deep brain stimulation. The highest incidence of these complication occurred in the early years of surgery for movement disorders, when neither MRI nor current stereotactic methods were available...
May 1, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28504123/erythropoietin-and-small-molecule-agonists-of-the-tissue-protective-erythropoietin-receptor-increase-fxn-expression-in-neuronal-cells-in-vitro-and-in-fxn-deficient-kiko-mice-in-vivo
#18
James L Miller, Myriam Rai, Normand L Frigon, Massimo Pandolfo, Juha Punnonen, Jeffrey R Spencer
Friedreich's ataxia (FRDA) is a progressive neurodegenerative disease caused by reduced levels of the mitochondrial protein frataxin (FXN). Recombinant human erythropoietin (rhEPO) increased FXN protein in vitro and in early clinical studies, while no published reports evaluate rhEPO in animal models of FRDA. STS-E412 and STS-E424 are novel small molecule agonists of the tissue-protective, but not the erythropoietic EPO receptor. We find that rhEPO, STS-E412 and STS-E424 increase FXN expression in vitro and in vivo...
May 11, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28503363/focused-ultrasound-for-essential-tremor-review-of-the-evidence-and-discussion-of-current-hurdles
#19
REVIEW
Mohammad Rohani, Alfonso Fasano
BACKGROUND: While there is no breakthrough progress in the medical treatment of essential tremor (ET), in the past decades several remarkable achievements happened in the surgical field, such as radiofrequency thalamotomy, thalamic deep brain stimulation, and gamma knife thalamotomy. The most recent advance in this area is magnetic resonance-guided focused ultrasound (MRgFUS). METHODS: The purpose of this review is to discuss the new developments and trials of MRgFUS in the treatment of ET and other tremor disorders...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28502009/quantitative-mass-spectrometry-by-isotope-dilution-and-multiple-reaction-monitoring-mrm
#20
Paul Russo, Brian L Hood, Nicholas W Bateman, Thomas P Conrads
Selected reaction monitoring (SRM) is used in molecular profiling to detect and quantify specific known proteins in complex mixtures. Using isotope dilution (Barnidge et al., Anal Chem 75(3):445-451, 2003) methodologies, peptides can be quantified without the need for an antibody-based method. Selected reaction monitoring assays employ electrospray ionization mass spectrometry (ESI-MS) followed by two stages of mass selection: a first stage where the mass of the peptide ion is selected and, after fragmentation by collision-induced dissociation (CID), a second stage (tandem MS) where either a single (e...
2017: Methods in Molecular Biology
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