Hereditary episodic ataxias.

Abstract:

:Hereditary episodic ataxia (EA) syndromes are rare monogenic disorders that are phenotypically and genetically heterogeneous. The number of identified EA phenotypes is expanding. So far, mutations have been identified in four genes, all coding for membrane proteins including ion channels and transporters. The study of EA has illuminated previously unrecognized but important roles of ion channels and transporters in cerebellar function. This review summarizes recent advances and focuses on practical approaches in the diagnosis and treatment of episodic ataxia.

journal_name

Ann N Y Acad Sci

authors

Jen JC

doi

10.1196/annals.1444.016

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

250-3

eissn

0077-8923

issn

1749-6632

pii

NYAS1142016

journal_volume

1142

pub_type

杂志文章,评审
  • The role of proopiomelanocortin-derived peptides in skin fibroblast and mast cell functions.

    abstract::We have previously described proopiomelanocortin (POMC) gene-expression in human normal cultured dermal fibroblasts, and its dose- and time-dependent modulation by transforming growth factor-beta (TGF-beta) and tumor necrosis factor-alpha (TNF-alpha). The aim of the work described here was to investigate POMC-derived ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1999.tb08684.x

    authors: Teofoli P,Frezzolini A,Puddu P,De Pità O,Mauviel A,Lotti T

    更新日期:1999-10-20 00:00:00

  • Differential expression of the c-abl proto-oncogene and the homeo box-containing gene Hox 1.4 during mouse spermatogenesis.

    abstract::Mammalian spermatogenesis is a complex developmental process. Spermatozoa, like ova, are uniquely capable of supporting embryonic development. Our approach to understanding this process is to identify genes whose developmental pattern of expression suggests that they may play a role in spermatogenesis. Experiments on ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1987.tb25002.x

    authors: Duggal RN,Zakeri ZF,Ponzetto C,Wolgemuth DJ

    更新日期:1987-01-01 00:00:00

  • Mechanism of induction of apoptosis by p73 and its relevance to neuroblastoma biology.

    abstract::TP73, as a TP53 homologue, drew the attention of tumor biologists because it is rarely mutated in human cancers and can induce cell cycle arrest and apoptosis by activating genes also regulated by p53. However, TP73 harbors an additional promoter that produces a dominant negative p73 protein (deltaNp73) having the opp...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1196/annals.1322.015

    authors: Rossi M,Sayan AE,Terrinoni A,Melino G,Knight RA

    更新日期:2004-12-01 00:00:00

  • Vitamin E and total parenteral nutrition.

    abstract::Vitamin E and essential fatty acid status were examined in two groups of patients, one receiving fat-free total parenteral nutrition (TPN) with intravenous all-rac-alpha-tocopherol for vitamin E deficiency and the other receiving routine intravenous fat (Intralipid, 10%) emulsions with TPN to supply both fatty acid an...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1982.tb31238.x

    authors: Thurlow PM,Grant JP

    更新日期:1982-01-01 00:00:00

  • Modulation of cellular signals by calpain.

    abstract::Calpain, an inactive proenzyme, translocates from the cytosol to the membrane upon binding calcium, and is activated at the membrane in the presence of calcium and PIP2. Activated calpain is very unstable and presumably used only once. Thus the primary targets of calpain are considered to be membrane or membrane-assoc...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.1992.tb27490.x

    authors: Suzuki K,Saido TC,Hirai S

    更新日期:1992-12-31 00:00:00

  • Density-driven instabilities of variable-viscosity miscible fluids in a capillary tube.

    abstract::A linear stability analysis is presented for variable-viscosity miscible fluids in an unstable configuration; that is, a heavier fluid placed above a lighter one in a vertically oriented capillary tube. The initial interface thickness is treated as a parameter to the problem. The analysis is based on the three-dimensi...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1324.032

    authors: Meiburg E,Vanaparthy SH,Payr MD,Wilhelm D

    更新日期:2004-11-01 00:00:00

  • Transplantation of pancreatic islets contained in minimal volume microcapsules in diabetic high mammalians.

    abstract::To minimize technical problems relating to excessive size (600-800 mu in diameter) of standard alginate microcapsules (CSM) for pancreatic islet graft immunoisolation, we have developed two novel minimal volume, chemically identical, capsule prototypes (MVC): 1) coherent microcapsules (CM), and 2) medium-size microcap...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.1999.tb08506.x

    authors: Calafiore R,Basta G,Luca G,Boselli C,Bufalari A,Bufalari A,Cassarani MP,Giustozzi GM,Brunetti P

    更新日期:1999-06-18 00:00:00

  • Phenotypic modulation of vascular smooth muscle cells: dissection of transcriptional regulatory mechanisms.

    abstract::The smooth muscle myosin heavy chain (MHC) gene and its isoforms are excellent molecular markers that reflect smooth muscle phenotypes. The SMemb/Nonmuscle Myosin Heavy Chain B (NMHC-B) is a distinct MHC gene expressed predominantly in phenotypically modulated SMCs (synthetic-type SMC). To dissect the molecular mechan...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2001.tb03930.x

    authors: Nagai R,Suzuki T,Aizawa K,Miyamoto S,Amaki T,Kawai-Kowase K,Sekiguchi KI,Kurabayashi M

    更新日期:2001-12-01 00:00:00

  • Molecular aspects of esophageal development.

    abstract::The following on molecular aspects of esophageal development contains commentaries on esophageal striated myogenesis and transdifferentiation; conversion from columnar into stratified squamous epithelium in the mouse esophagus; the roles for BMP signaling in the developing esophagus and forestomach; and evidence of a ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2011.06071.x

    authors: Rishniw M,Rodriguez P,Que J,Burke ZD,Tosh D,Chen H,Chen X

    更新日期:2011-09-01 00:00:00

  • Therapy for beta-globinopathies: a brief review and determinants for successful and safe correction.

    abstract::Gene therapy for beta-globinopathies, particularly beta-thalassemia and sickle cell anemia, hold much promise for the future, as a one time cure for these common and debilitating disorders. Correction of the beta-globinopathies using lentivirus vectors (LV) carrying the beta- or gamma-globin genes and elements of the ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2010.05584.x

    authors: Perumbeti A,Malik P

    更新日期:2010-08-01 00:00:00

  • Written in stone: memory and reconciliation intersecting the urban biosphere.

    abstract::The article describes the process of planning the Memorial of Disappeared Detained Citizens in the City of Montevideo, Uruguay, the construction of which was completed in January 2003. It explores the role that memory, planning, and reconciliation carried out in the public realm can play in the context of an urban env...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1319.013

    authors: Kohen M

    更新日期:2004-06-01 00:00:00

  • Imaging brain response to reward in addictive disorders.

    abstract::We compare the evidence from human neuroimaging studies for and against two of the major hypotheses of how alterations in the brain's reward system underlie addiction. One of these, the impulsivity hypothesis, proposes that addiction is characterized by excessive sensitivity to reward combined with a failure of inhibi...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2010.05898.x

    authors: Hommer DW,Bjork JM,Gilman JM

    更新日期:2011-01-01 00:00:00

  • Translational research of ghrelin.

    abstract::Gastrointestinal peptides play important roles regulating feeding and energy homeostasis. Most gastrointestinal peptides including glucagon like peptide-1, peptide YY, amylin, and oxytomodulin are anorectic, and only ghrelin is an orexigenic peptide. Ghrelin increases appetite, modulates energy balance, suppresses inf...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2010.05509.x

    authors: Ueno H,Shiiya T,Nakazato M

    更新日期:2010-07-01 00:00:00

  • Ehrlichia ruminantium: a promiscuous genome.

    abstract::The intracellular bacterium, Ehrlichia ruminantium, is the causative agent of heartwater, a tick-borne disease of livestock. Because vaccines need to incorporate components from several virulent isolates, it is essential to have information on the extent of genetic variation among isolates. We therefore amplified and ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1355.017

    authors: Allsopp M,Steyn H,Zweygarth E,Allsopp B

    更新日期:2005-12-01 00:00:00

  • Functional regulation of alternatively spliced Na+/Ca2+ exchanger (NCX1) isoforms.

    abstract::Alternative splicing of RNA transcripts is a general characteristic for NCX genes in mammals, mollusks, and arthropods. Among the family of three NCX genes in mammals, the NCX1 gene contains six exons, namely, A, B, C, D, E, and F, that make up the alternatively spliced region. Studies of the NCX1 gene transcripts sug...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2002.tb04740.x

    authors: Schulze DH,Polumuri SK,Gille T,Ruknudin A

    更新日期:2002-11-01 00:00:00

  • Postmating sexual conflict and female control over fertilization during gamete interaction.

    abstract::Males and females rarely have identical evolutionary interests over reproduction, and when the fitness of both sexes is dependent upon paternity outcomes, sexual conflict over fertilization is inevitable. In internal fertilizers, the female tract is a formidable selective force on the number and integrity of sperm tha...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/nyas.13635

    authors: Firman RC

    更新日期:2018-06-01 00:00:00

  • Early precancerous modifications in the mucus of human and rat distal colon: a comparative immunohistologic study.

    abstract::The M1 antigens, associated with gastric fucomucin, the early oncofetal precancerous marker for the distal colon, were studied using the immunoperoxidase method in the distal colon. We compared human tumoral mucosa with that of rats during DMH-induced carcinogenesis. In both cases we examined histologically normal muc...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1983.tb32862.x

    authors: Bara J,Decaens C,Burtin P

    更新日期:1983-01-01 00:00:00

  • Hypercortisolism and obesity.

    abstract::Obesity is a multifactorial heterogenous condition. The location of excess fat on the body determines the risk of morbidity and mortality for significant disease. Visceral, or intraabdominal, fat is the fat depot most highly associated with illness and death from cardiocerebrovascular disease and diabetes. Visceral fa...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.1995.tb44719.x

    authors: Peeke PM,Chrousos GP

    更新日期:1995-12-29 00:00:00

  • How to design a therapeutic study in patients with the post-polio syndrome. Methodological concerns and status of present therapies.

    abstract::The innervation of muscles in patients with the post-polio syndrome (PPS) may differ from limb to limb or even within the same limb because of the segmental nature of the initial involvement and the varying degree of subsequent recovery. Consequently, the compensatory effort of the neighboring muscles varies even in t...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1995.tb27557.x

    authors: Dalakas MC

    更新日期:1995-05-25 00:00:00

  • Molecular evidence of Coxiella-like microorganism harbored by Haemaphysalis concinnae ticks in the Russian Far East.

    abstract::Twenty female imago of Haemaphysalis concinnae ticks collected from wild vegetation in May of 2001 in the Obor region near Khabarovsk in the Russian Far East were studied. DNA was extracted with commercially available kits following manufacturer's instructions. We used broad range primers SFG3 and SFG6 proposed for am...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2003.tb07367.x

    authors: Mediannikov O,Ivanov L,Nishikawa M,Saito R,Sidelnikov YN,Zdanovskaya NI,Tarasevich IV,Suzuki H

    更新日期:2003-06-01 00:00:00

  • A model of social influence on body mass index.

    abstract::In this paper, we develop an agent-based model of social influence on body weight. The model's assumptions are grounded in theory and evidence from physiology, social psychology, and behavioral science, and its outcomes are tested against longitudinal data from American youth. We discuss the implementation of the mode...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/nyas.12344

    authors: Hammond RA,Ornstein JT

    更新日期:2014-12-01 00:00:00

  • Autologous hematopoietic stem cell transplantation for type 1 diabetes.

    abstract::In this review, we present (1) the scientific basis for the use of high-dose immunosuppression followed by autologous peripheral blood hematopoietic stem cell transplantation for newly diagnosed type 1 diabetes (T1D); (2) an update of the clinical and laboratory outcome of 20 patients transplanted at the University Ho...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1196/annals.1447.048

    authors: Voltarelli JC,Couri CE,Stracieri AB,Oliveira MC,Moraes DA,Pieroni F,Barros GM,Madeira MI,Malmegrim KC,Foss-Freitas MC,Simões BP,Foss MC,Squiers E,Burt RK

    更新日期:2008-12-01 00:00:00

  • Comparative analysis of the islet proteome between NOD/Lt and ALR/Lt mice.

    abstract::Although alloxan-resistant (ALR) mice share 70% of the NOD genome, ALR islets are remarkably resistant to oxidative stress and autoimmunity. Using 2D PAGE comparative analysis, we have characterized 55 proteins that are differentially expressed between the NOD and ALR islet proteome. Ten proteins were found to be high...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1447.002

    authors: Yang P,Li M,Guo D,Gong F,Adam BL,Atkinson MA,Wang CY

    更新日期:2008-12-01 00:00:00

  • Identification of a coronin-like protein in Babesia species.

    abstract::The present study was designed to immunochemically identify a coronin-like protein in Babesia bovis, B. bigemina, B. divergens, and B. canis. A 2-kbp cDNA insert of B. bovis carried by plasmid BvN9 was sequenced by the dideoxichain-termination method on both strands. The cDNA insert contained a 1719-bp long open readi...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1307.017

    authors: Figueroa JV,Precigout E,Carcy B,Gorenflot A

    更新日期:2004-10-01 00:00:00

  • Effects of calcium "antagonists" on vertebrate skeletal muscle cells.

    abstract::Clinically potent skeletal muscle relaxants are used primarily for their effects on the central nervous system. But they also have direct effects on muscle contraction that possibly involve Ca2+ channels. We compared the effects of dantrolene, an agent known to have a direct action on vertebrate skeletal muscle, with ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1988.tb33363.x

    authors: Helland LA,Lopez JR,Taylor SR,Trube G,Wanek LA

    更新日期:1988-01-01 00:00:00

  • Insights into the molecular pathogenesis and targeted treatment of lymphedema.

    abstract::Abnormal function of the lymphatic vessels is associated with a variety of diseases, such as tumor metastasis and lymphedema. The development of strategies for local and controlled induction or inhibition of lymphangiogenesis would thus be of major importance for the treatment of such diseases. Two growth factors, vas...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2002.tb04871.x

    authors: Saaristo A,Karkkainen MJ,Alitalo K

    更新日期:2002-12-01 00:00:00

  • Shikonin production by extractive cultivation in transformed-suspension and hairy root cultures of Lithospermum erythrorhizon.

    abstract::Effects of in situ extraction, fungal elicitation, a permeabilizing agent, and the oxygen transfer rate on shikonin production in transformed suspension and hairy root cultures of Lithospermum erythrorhizon were studied. Shikonin production with in situ extraction in transformed cell and hairy root cultures by n-hexad...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1994.tb44395.x

    authors: Sim SJ,Kim DJ,Chang HN

    更新日期:1994-11-30 00:00:00

  • Occurrence and effect of PACAP in the human fetal adrenal gland.

    abstract::In the study reported in this paper, we characterized PACAP in the human fetal adrenal gland and we investigated the effect of PACAP on steroid secretion from cultured fetal adrenal cells. The adrenal gland from 20-week-old fetuses contained substantial concentrations of PACAP-immunoreactive material (88.6 ng/g wet ti...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2000.tb07010.x

    authors: Breault L,Yon L,Montéro M,Chouinard L,Contesse V,Delarue C,Fournier A,Lehoux JG,Vaudry H,Gallo-Payet N

    更新日期:2000-01-01 00:00:00

  • Mechanisms of hypothalamic-pituitary-adrenal axis stimulation by immune signals in the adult rat.

    abstract::Immune stimulation increases the activity of the HPA axis, a phenomenon directly or indirectly mediated through cytokines. We have used two models, the peripheral administration of endotoxin (LPS) or turpentine-induced tissue injury to show that corticotropin-releasing factor (CRF) and vasopressin (VP), hypothalamic p...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.1998.tb09582.x

    authors: Turnbull AV,Lee S,Rivier C

    更新日期:1998-05-01 00:00:00

  • Laboratory studies on the immune effects of halogenated aromatics.

    abstract::The effects of TCDD exposure on the developing immune system were investigated in Wistar/Fischer hybrid or Fischer rats. Fetal and neonatal rats were exposed to TCDD through maternal dosing (5 muk/kg) on day 18 of gestation and on days 0, 7, and 14 of postnatal life (group 1). Another group of neonatal rats was expose...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1979.tb56628.x

    authors: Luster MI,Faith RE,Clark G

    更新日期:1979-05-31 00:00:00