ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.

Abstract:

:Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome. Recently, two unique ATP7A missense mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy. These mutations induce subtle defects in ATP7A intracellular trafficking resulting in preferential accumulation at the plasma membrane compared to wild-type ATP7A. Immunoprecipitation assays revealed abnormal interaction between ATP7A(T994I) and p97/VCP, a protein mutated in two autosomal dominant forms of motor neuron disease. Small-interfering RNA knockdown of valosin-containing protein corrected ATP7A(T994I) mislocalization. For ATP7A(P1386S) , flow cytometry documented that nonpermeabilized fibroblasts bound a C-terminal ATP7A antibody, suggesting unstable insertion of the eighth transmembrane segment due to a helix-breaker effect of the amino acid substitution. This could sabotage interaction of ATP7A(P1386S) with adaptor protein complexes. These molecular events appear to selectively disturb normal motor neuron function and lead to neurologic illness that takes years and sometimes decades to develop.

journal_name

Ann N Y Acad Sci

authors

Yi L,Kaler S

doi

10.1111/nyas.12427

subject

Has Abstract

pub_date

2014-05-01 00:00:00

pages

49-54

eissn

0077-8923

issn

1749-6632

journal_volume

1314

pub_type

杂志文章
  • Purification of Cowdria ruminantium organisms for use in genome analysis by pulsed-field gel electrophoresis.

    abstract::Cowdria ruminantium is an obligate intracellular rickettsial pathogen which is responsible for a tick-borne disease of domestic and wild ruminants called heartwater or cowdriosis. Although several genes have been cloned and partially sequenced, the genome size, gross structure, and organization of the C. ruminantium g...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1998.tb11064.x

    authors: de Villiers EP,Brayton KA,Zweygarth E,Allsopp BA

    更新日期:1998-06-29 00:00:00

  • The molecular cross talk of the dystrophin-glycoprotein complex.

    abstract::The proper function of skeletal muscles relies on their ability to process signals derived from motor neurons, transmit stimuli along the muscle fibers, contract, and regenerate efficiently after injury. The dystrophin-glycoprotein complex (DGC; also called the dystrophin-associated protein complex) plays a central ro...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/nyas.13500

    authors: Gawor M,Prószyński TJ

    更新日期:2018-01-01 00:00:00

  • Crystal structure analysis of recombinant human uteroglobin and molecular modeling of ligand binding.

    abstract::Uteroglobin, a steroid-inducible, cytokine-like, secreted protein with immunomodulatory properties, has been reported to bind progesterone, polychlorinated biphenyls (PCB), and retinol. Structural studies may delineate whether binding of ligands is a likely physiological function of human uteroglobin (hUG). We report ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2000.tb05523.x

    authors: Pattabiraman N,Matthews JH,Ward KB,Mantile-Selvaggi G,Miele L,Mukherjee AB

    更新日期:2000-01-01 00:00:00

  • Data requirements of reverse-engineering algorithms.

    abstract::Data Sets used in reverse engineering of biochemical networks contain usually relatively few high-dimensional data points, which makes the problem in general vastly underdetermined. It is therefore important to estimate the probability that a given algorithm will return a model of acceptable quality when run on a data...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1407.008

    authors: Just W

    更新日期:2007-12-01 00:00:00

  • Lambert-eaton myasthenic syndrome: diagnosis and treatment.

    abstract::A high index of suspicion is essential in arriving at the correct diagnosis of Lambert-Eaton myasthenic syndrome (LEMS). LEMS should be considered in the differential in any patient who has proximal weakness, reduced or absent muscle stretch reflexes, and dry mouth. Weakness predominates in hip and shoulder muscles, b...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1196/annals.1254.065

    authors: Sanders DB

    更新日期:2003-09-01 00:00:00

  • Involvement of DPPIV/CD26 in epithelial morphology and suppressed invasive ability in ovarian carcinoma cells.

    abstract::Dipeptidyl peptidase IV (DPPIV) is a multifunctional cell surface aminopeptidase with ubiquitous expression and it has a variety of functional properties in the development of human malignancies. In the present study, we showed the possible correlation between DPPIV/CD26 expression and less migratory potential with de...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1377.007

    authors: Kajiyama H,Shibata K,Terauchi M,Ino K,Nawa A,Kikkawa F

    更新日期:2006-11-01 00:00:00

  • Oncogenes and phosphatidylinositol turnover.

    abstract::Products of phosphatidylinositol turnover have recently been implicated as regulators of cell growth and differentiation. Transformation of cells in culture by infection with certain viruses (Rous sarcoma virus, Kirsten sarcoma virus, and polyoma virus) or by transfection with the oncogenes carried by these viruses af...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.1986.tb46580.x

    authors: Cantley LC,Whitman M,Chahwala S,Fleischman L,Kaplan DR,Schaffhausen BS,Roberts TM

    更新日期:1986-01-01 00:00:00

  • Multifunctionalized biocompatible microspheres for sensing.

    abstract::We present our achievements in the synthesis and application of multifunctionalized, cross-linked, polystyrene microspheres, which remarkably and quite generally are taken up by all cell types studied to date. Importantly, the nature of these synthetic beads allows multistep solid-phase chemistry and the ability to bi...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1196/annals.1430.004

    authors: Sánchez-Martín RM,Alexander L,Bradley M

    更新日期:2008-01-01 00:00:00

  • From sugar to fat: How the transcription factor XBP1 regulates hepatic lipogenesis.

    abstract::Lipogenesis occurs primarily in the liver, where dietary carbohydrates control the expression of key enzymes in glycolytic and lipogenic pathways. We have recently discovered that the transcription factor XBP1, best known as a key regulator of the unfolded protein response (UPR), is required for de novo fatty acid syn...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2009.04956.x

    authors: Glimcher LH,Lee AH

    更新日期:2009-09-01 00:00:00

  • Fibroblasts create compartments in the extracellular space where collagen polymerizes into fibrils and fibrils associate into bundles.

    abstract::Morphogenesis in the animal kingdom is closely coupled with the intracellular synthesis and the extracellular deposition of collagen. These morphogenetically important events involve multiple steps which begin in compartments inside the cell and continue in compartments outside the cell. The movement of matrix compone...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1985.tb51173.x

    authors: Birk DE,Trelstad RL

    更新日期:1985-01-01 00:00:00

  • Natural mentoring relationships among survivors of caregiver childhood abuse: findings from the Add Health Study.

    abstract::Social support promotes resilience to adverse childhood events, but little is known about the role of natural mentors-caring, nonparental adults-in the lives of childhood abuse survivors. The current study draws from a large, longitudinal, nationally representative sample (Add Health) to examine the prevalence and cha...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/nyas.14313

    authors: Weber Ku EB,Hagler MA,Parnes MF,Schwartz SEO,Rhodes JE,Erickson LD

    更新日期:2021-01-01 00:00:00

  • SNAP-25 in neuropsychiatric disorders.

    abstract::SNAP-25 (synaptosomal-associated protein of 25 kDa) is a plasma membrane protein that, together with syntaxin and the synaptic vesicle protein VAMP/synaptobrevin, forms the SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) docking complex for regulated exocytosis. SNAP-25 also modulates dif...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2008.03995.x

    authors: Corradini I,Verderio C,Sala M,Wilson MC,Matteoli M

    更新日期:2009-01-01 00:00:00

  • Evaluating the prevalence of olfactory dysfunction in a pediatric population.

    abstract::Although smell loss has several potential etiologies (e.g., head trauma, allergic rhinitis, and enlarged adenoids) that are common among children, studies evaluating the prevalence of olfactory dysfunction in the pediatric population are rare. Several challenges confront the clinician or researcher hoping to evaluate ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2009.03919.x

    authors: Dalton P,Mennella JA,Cowart BJ,Maute C,Pribitkin EA,Reilly JS

    更新日期:2009-07-01 00:00:00

  • Obesity, leptin, and Alzheimer's disease.

    abstract::Obesity has various deleterious effects on health largely associated with metabolic abnormalities including abnormal glucose and lipid homeostasis that are associated with vascular injury and known cardiac, renal, and cerebrovascular complications. Advanced age is also associated with increased adiposity, decreased le...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2011.06274.x

    authors: Lee EB

    更新日期:2011-12-01 00:00:00

  • Synchronization of posttranslational modifications during aging: Time is a crucial biological dimension.

    abstract::There is an urgent need for surrogate biomarkers in clinical diagnostics but also preclinical in toxicology of chemicals and efficacy testing of pharmaceuticals. On the background of the emerging fields of systems biology and theranostics, the importance of time scales and the synchronization of complex biological rea...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2009.05395.x

    authors: Schrattenholz A,Soskić V,Groebe K

    更新日期:2010-06-01 00:00:00

  • PACAP, VIP, and PHI: effects on AC-, PLC-, and PLD-driven signaling systems in the primary glial cell cultures.

    abstract::Pituitary adenylate cyclase-activating polypeptide (PACAP), vasoactive intestinal peptide (VIP), and peptide histidine-isoleucine (PHI) are members of a superfamily of structurally related peptides widely distributed in the body and displaying pleiotropic biological activities. All these peptides are known to act via ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1317.018

    authors: Dejda A,Jozwiak-Bebenista M,Nowak JZ

    更新日期:2006-07-01 00:00:00

  • Elastic protein-based materials in tissue reconstruction.

    abstract::In natural tissues, cells form multiple attachment sites to their extracellular matrix. By means of those attachments, cells deform as the tissue deforms in response to the natural mechanical stresses and strains that the tissue must sustain during function. These mechanical forces are the energy input that instruct t...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.1997.tb52182.x

    authors: Urry DW,Pattanaik A

    更新日期:1997-12-31 00:00:00

  • A new model for in vitro clot formation that considers the mode of the fibrin(ogen) contacts to platelets and the arrangement of the platelet cytoskeleton.

    abstract::The constitution of platelet-fibrin(ogen) contacts, the separation of the platelets initially aggregated, and the rearrangement of the platelet cytoskeleton during clot formation (0.5 to 60 minutes after thrombin stimulation) were investigated using ultrastructural and immunocytochemical techniques. After aggregation,...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2001.tb03529.x

    authors: Morgenstern E,Daub M,Dierichs R

    更新日期:2001-01-01 00:00:00

  • Challenging the neurobiological link between number sense and symbolic numerical abilities.

    abstract::A significant body of research links individual differences in symbolic numerical abilities, such as arithmetic, to number sense, the neurobiological system used to approximate and manipulate quantities without language or symbols. However, recent findings from cognitive neuroscience challenge this influential theory....

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/nyas.14225

    authors: Wilkey ED,Ansari D

    更新日期:2020-03-01 00:00:00

  • Consideration of a unified model of amygdalar associative functions.

    abstract::This paper considers issues arising from presentations by Barry Everitt and Gorica Petrovich concerning amygdalar involvement in appetitive conditioning. Studies reported by these researchers are beginning to unravel the distribution of associative functions among amygdalar nuclei and their efferent targets. The main ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1111/j.1749-6632.2003.tb07083.x

    authors: Gabriel M,Burhans L,Kashef A

    更新日期:2003-04-01 00:00:00

  • Lack of N1L gene expression results in a significant decrease of vaccinia virus replication in mouse brain.

    abstract::Vaccinia virus encodes secretory proteins termed virokines. One of the major virokines encoded by the N1L open reading frame is the 13.8 kDa protein. A recombinant virus, termed vGK5, lacking this protein when injected intracranially into mice, has one of the highest levels of in vivo attenuation achieved by deletion ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1329.037

    authors: Billings B,Smith SA,Zhang Z,Lahiri DK,Kotwal GJ

    更新日期:2004-12-01 00:00:00

  • A statistical approach in using cDNA array analysis to determine modest changes in gene expression in several brain regions after neurotoxic insult.

    abstract::Modest changes in gene expression of three-fold or less might be expected after mild to moderate neurotoxic exposure to classes of compounds, such as the substituted amphetamines, or at time points that are weeks after more severe neurotoxic exposures. When many genes appear to change expression by less than two-fold,...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.2003.tb07546.x

    authors: Delongchamp RR,Harris AJ,Bowyer JF

    更新日期:2003-05-01 00:00:00

  • Dietary and nutritional change in India: implications for strategies, policies, and interventions.

    abstract::Despite the global transition to overnutrition, stunting affected approximately 159 million children worldwide in 2014, while an estimated 50 million children were wasted. India is an important front in the fight against malnutrition and is grappling with the coexistence of undernutrition, overnutrition, and micronutr...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/nyas.13324

    authors: Shankar B,Agrawal S,Beaudreault AR,Avula L,Martorell R,Osendarp S,Prabhakaran D,Mclean MS

    更新日期:2017-05-01 00:00:00

  • Effect of valproic acid, a histone deacetylase inhibitor, on cell death and molecular changes caused by low-dose irradiation.

    abstract::Valproic acid (VA), a histone deacetylase inhibitor (HDACI), in vitro induces differentiation of promyelocyte leukemia cell (HL-60) and proliferation arrest and apoptosis of various leukemia cell lines. In MOLT-4 cells (human T lymphocyte leukemia) the cell cycle arrest is caused by 2 mM VA, while 4 mM VA induces main...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1378.082

    authors: Záskodová D,Rezácová M,Vávrová J,Vokurková D,Tichy A

    更新日期:2006-12-01 00:00:00

  • Galanin causes Cl- secretion in the human colon. Potential significance of inflammation-associated NF-kappa B activation on galanin-1 receptor expression and function.

    abstract::Galanin is widely distributed in enteric nerves and nerve terminals throughout the gastrointestinal (GI) tract. Within the GI tract galanin is best known for its ability to alter smooth muscle contractility and regulate intestinal motility. However, recent studies also indicate that galanin can modulate epithelial ion...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1998.tb10684.x

    authors: Benya RV,Matkowskyj KA,Danilkovich A,Hecht G

    更新日期:1998-12-21 00:00:00

  • Bias in retrospective studies of spontaneous abortion based on the outcome of the most recent pregnancy.

    abstract::In a retrospective studies of spontaneous abortion, bias can arise if the investigator restricts attention to the outcome of the most recent pregnancy. Bias happens because couples tend to replace spontaneous abortions with other pregnancies until they achieve a live birth, after which they may avoid conception for a ...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1111/j.1749-6632.1994.tb30416.x

    authors: Weinberg CR,Baird DD,Wilcox AJ

    更新日期:1994-02-18 00:00:00

  • Insights into ototoxicity. Analogies to nephrotoxicity.

    abstract::The most common ototoxic compounds in clinical practice are aminoglycoside antibiotics, cisplatin, and loop diuretics (ethacrynic acid and furosemide). These agents also have substantial renal effects in the form of nephrotoxicity or diuresis. The understanding of these renal effects may provide insight into ototoxic ...

    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.tb00278.x

    authors: Humes HD

    更新日期:1999-11-28 00:00:00

  • Understanding, managing, and minimizing urban impacts on surface water nitrogen loading.

    abstract::The concentration of materials and energy within cities is an inevitable consequence of dense populations and their per capita requirements for food, fiber, and fuel. As the world population becomes increasingly urban over the coming decades, urban areas will dramatically affect the distribution of nutrients across th...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章,评审

    doi:10.1196/annals.1439.014

    authors: Bernhardt ES,Band LE,Walsh CJ,Berke PE

    更新日期:2008-01-01 00:00:00

  • The Caribbean Amblyomma Program: some ecologic factors affecting its success.

    abstract::The Caribbean Amblyomma Program has been operational for 8 years. However, owing to funding availability, some islands did not commence eradication activities until late 1997. During the past 2 years, 6 of the 9 islands (St. Kitts, St. Lucia, Anguilla, Montserrat, Barbados, and Dominica) under the program have attaine...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1307.056

    authors: Pegram R,Indar L,Eddi C,George J

    更新日期:2004-10-01 00:00:00

  • Evaluation of exposure to PAHs in asphalt workers by environmental and biological monitoring.

    abstract::In the present article we assessed exposure to polycyclic aromatic hydrocarbons (PAHs) in Italian asphalt workers (AW, n = 100), exposed to bitumen fumes and diesel exhausts, and in roadside construction workers (CW, n = 47), exposed to diesel exhausts, by means of environmental and biological monitoring. 1-hydroxypyr...

    journal_title:Annals of the New York Academy of Sciences

    pub_type: 杂志文章

    doi:10.1196/annals.1371.013

    authors: Campo L,Buratti M,Fustinoni S,Cirla PE,Martinotti I,Longhi O,Cavallo D,Foà V

    更新日期:2006-09-01 00:00:00