Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.

Abstract:

:The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Prohaska R,Sibon OC,Rudnicki DD,Danek A,Hayflick SJ,Verhaag EM,Vonk JJ,Margolis RL,Walker RH

doi

10.1016/j.nbd.2012.03.006

subject

Has Abstract

pub_date

2012-06-01 00:00:00

pages

607-24

issue

3

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(12)00077-0

journal_volume

46

pub_type

杂志文章,评审
  • Increased neuronal glutathione and neuroprotection in GTRAP3-18-deficient mice.

    abstract::Glutathione (GSH) is an important neuroprotective molecule in the brain. The strategy to increase neuronal GSH level is a promising approach to the treatment of neurodegenerative diseases. However, the regulatory mechanism by which neuron-specific GSH synthesis is facilitated remains elusive. Glutamate transporter-ass...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2011.12.016

    authors: Aoyama K,Wang F,Matsumura N,Kiyonari H,Shioi G,Tanaka K,Kinoshita C,Kikuchi-Utsumi K,Watabe M,Nakaki T

    更新日期:2012-03-01 00:00:00

  • Deconstructing the neural and ionic involvement of seizure-like events in the striatal network.

    abstract::Seizures occur in the basal ganglia (BG) of epileptic patients and in animal models of epilepsy, but there is relatively little known about how these events are gated and/or propagated through this structure. Here, we present and characterize a model of in vitro seizure-like events (SLEs) in the striatum by applying c...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2012.11.019

    authors: Yu W,Calos M,Pilitsis J,Shin DS

    更新日期:2013-04-01 00:00:00

  • Changes in cytoskeletal gene expression linked to MPTP-treatment in Mice.

    abstract::Parkinson's disease is a neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra and a marked reduction of dopamine (DA) levels in the striatum. Binding to its specific receptors, DA switches on a complex program of intracellular signaling that regulates gene ex...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2005.05.014

    authors: Cuadrado-Tejedor M,Sesma MT,Giménez-Amaya JM,Ortiz L

    更新日期:2005-12-01 00:00:00

  • Targeting 5-HT(1A) receptors in astrocytes to protect dopaminergic neurons in Parkinsonian models.

    abstract::Astrocytes are abundant neuron-supporting glial cells that harbor a powerful arsenal of neuroprotective antioxidative molecules and neurotrophic factors. Here we examined whether enrichment with healthy striatal astrocytes can provide neuroprotection against progressive dopaminergic neurodegeneration. Serotonin 1A (5-...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2013.08.003

    authors: Miyazaki I,Asanuma M,Murakami S,Takeshima M,Torigoe N,Kitamura Y,Miyoshi K

    更新日期:2013-11-01 00:00:00

  • Paradoxical function of orexin/hypocretin circuits in a mouse model of Huntington's disease.

    abstract::Huntington's disease (HD) is a neurodegenerative disorder involving progressive motor disturbances, cognitive decline, and desynchronized sleep-wake rhythms. Recent studies revealed that restoring normal sleep-wake cycles can improve cognitive function in HD mice, suggesting that some sleep/wake systems remain operati...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2011.02.006

    authors: Williams RH,Morton AJ,Burdakov D

    更新日期:2011-06-01 00:00:00

  • Cell injury and receptor expression in the epileptic human amygdala.

    abstract::Neuropathological findings in the amygdala obtained from patients with mesial temporal lobe epilepsy (MTLE) indicate varying degrees of histopathological alterations, such as neuronal loss and gliosis. The mechanisms underlying cellular damage in the amygdala of patients with MTLE have not been fully elucidated. In th...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2018.12.017

    authors: Jafarian M,Modarres Mousavi SM,Alipour F,Aligholi H,Noorbakhsh F,Ghadipasha M,Gharehdaghi J,Kellinghaus C,Kovac S,Khaleghi Ghadiri M,Meuth SG,Speckmann EJ,Stummer W,Gorji A

    更新日期:2019-04-01 00:00:00

  • Infection of sympathetic and sensory neurones with herpes simplex virus does not elicit a shut-off of cellular protein synthesis: implications for viral latency and herpes vectors.

    abstract::Infection of non-neuronal cell types with herpes simplex virus type 1 (HSV-1) results in the degradation of host mRNA (Kwong & Frenkel 1987) and a shutoff in host protein synthesis (Roizman et al. 1965). This effect is mediated by a virion associated protein that is encoded by the viral vhs gene (Read & Frenkel 1983)....

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1006/nbdi.1994.0011

    authors: Nichol PF,Chang JY,Johnson EM Jr,Olivo PD

    更新日期:1994-11-01 00:00:00

  • Alpha-synuclein deregulates the expression of COL4A2 and impairs ER-Golgi function.

    abstract::Alpha-synuclein (aSyn) is the major protein component of Lewy bodies and Lewy neurites, the typical pathological hallmarks in Parkinson's disease (PD) and Dementia with Lewy bodies. aSyn is capable of inducing transcriptional deregulation, but the precise effect of specific aSyn mutants associated with familial forms ...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2018.08.001

    authors: Paiva I,Jain G,Lázaro DF,Jerčić KG,Hentrich T,Kerimoglu C,Pinho R,Szegő ÈM,Burkhardt S,Capece V,Halder R,Islam R,Xylaki M,Caldi Gomes LA,Roser AE,Lingor P,Schulze-Hentrich JM,Borovečki F,Fischer A,Outeiro TF

    更新日期:2018-11-01 00:00:00

  • In vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.

    abstract::Developing in vivo functional and structural neuroimaging assays in Dyt1 ΔGAG heterozygous knock-in (Dyt1 KI) mice provide insight into the pathophysiology underlying DYT1 dystonia. In the current study, we examined in vivo functional connectivity of large-scale cortical and subcortical networks in Dyt1 KI mice and wi...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2016.07.005

    authors: DeSimone JC,Febo M,Shukla P,Ofori E,Colon-Perez LM,Li Y,Vaillancourt DE

    更新日期:2016-11-01 00:00:00

  • Biology of A beta amyloid in Alzheimer's disease.

    abstract::The genetic associations with the pathological features of AD are diverse: A rapidly growing number of mutations in presenilin 1 and 2 on chromosomes 14 and 1, respectively, are found in many early-onset FAD patients (Lendon et al., 1997). In addition, beta PP mutations are found in a small percentage of early-onset F...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章,评审

    doi:10.1006/nbdi.1997.0147

    authors: Wisniewski T,Ghiso J,Frangione B

    更新日期:1997-01-01 00:00:00

  • Neuroprotective activity of ursodeoxycholic acid in CHMP2BIntron5 models of frontotemporal dementia.

    abstract::Frontotemporal dementia (FTD) is one of the most prevalent forms of early-onset dementia. It represents part of the FTD-Amyotrophic Lateral Sclerosis (ALS) spectrum, a continuum of genetically and pathologically overlapping disorders. FTD-causing mutations in CHMP2B, a gene encoding a core component of the heteromeric...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2020.105047

    authors: West RJH,Ugbode C,Fort-Aznar L,Sweeney ST

    更新日期:2020-10-01 00:00:00

  • Effect of hypoxic preconditioning on brain genomic response before and following ischemia in the adult mouse: identification of potential neuroprotective candidates for stroke.

    abstract::The aim of the present study is to better understand oxygen-sensitive adaptative pathways underlying the hypoxic preconditioning-induced protection of the brain against ischemia. Using oligonucleotide microarrays, we examined the brain genomic response of adult mice following hypoxia preconditioning (8% O2 for 1 or 6 ...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2005.06.002

    authors: Tang Y,Pacary E,Fréret T,Divoux D,Petit E,Schumann-Bard P,Bernaudin M

    更新日期:2006-01-01 00:00:00

  • Ethanol-induced death of postnatal hippocampal neurons.

    abstract::Fetal alcohol exposure causes severe neuropsychiatric problems, but mechanisms of the ethanol-associated changes in central nervous system development are unclear. In vivo, ethanol's interaction with N-methyl-D-aspartate (NMDA) and gamma-aminobutyric acid type A (GABA(A)) receptors may cause increased apoptosis in the...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1006/nbdi.2002.0523

    authors: Moulder KL,Fu T,Melbostad H,Cormier RJ,Isenberg KE,Zorumski CF,Mennerick S

    更新日期:2002-08-01 00:00:00

  • Cerebrovascular pathology during the progression of experimental Alzheimer's disease.

    abstract::Clinical and experimental evidence point to a possible role of cerebrovascular dysfunction in Alzheimer's disease (AD). The 5xFAD mouse model of AD expresses human amyloid precursor protein and presenilin genes with mutations found in AD patients. It remains unknown whether amyloid deposition driven by these mutations...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2016.01.001

    authors: Giannoni P,Arango-Lievano M,Neves ID,Rousset MC,Baranger K,Rivera S,Jeanneteau F,Claeysen S,Marchi N

    更新日期:2016-04-01 00:00:00

  • Identification of a unique apolipoprotein E allele in Microcebus murinus; ApoE brain distribution and co-localization with beta-amyloid and tau proteins.

    abstract::This report is devoted to the characterization of the apolipoprotein E (ApoE) in Microcebus murinus. Only one allele homologous to the human ApoE4 allele was evidenced. The distribution of the corresponding ApoE protein in the brain was found in association with the pathological proteins characteristic of Alzheimer's ...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1006/nbdi.1995.0018

    authors: Calenda A,Jallageas V,Silhol S,Bellis M,Bons N

    更新日期:1995-06-01 00:00:00

  • Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

    abstract::The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K(+)](o) in the brain, which is essential for normal neuronal activity and synaptic functioning. KCNJ10, encoding Kir4.1, has been recently linked to seizure susceptibility in humans and mice, and is a possible ...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2011.03.016

    authors: Sicca F,Imbrici P,D'Adamo MC,Moro F,Bonatti F,Brovedani P,Grottesi A,Guerrini R,Masi G,Santorelli FM,Pessia M

    更新日期:2011-07-01 00:00:00

  • Impaired ATF6α processing, decreased Rheb and neuronal cell cycle re-entry in Huntington's disease.

    abstract::The endoplasmic reticulum-stress response is induced in several neurodegenerative diseases and in cellular models of Huntington's disease. However, here we report that the processing of ATF6α to its active nuclear form, one of the three branches of endoplasmic reticulum-stress activation, is impaired in both animal mo...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2010.08.014

    authors: Fernandez-Fernandez MR,Ferrer I,Lucas JJ

    更新日期:2011-01-01 00:00:00

  • Small RNA modifications in Alzheimer's disease.

    abstract::Background While significant advances have been made in uncovering the aetiology of Alzheimer's disease and related dementias at the genetic level, molecular events at the epigenetic level remain largely undefined. Emerging evidence indicates that small non-coding RNAs (sncRNAs) and their associated RNA modifications ...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2020.105058

    authors: Zhang X,Trebak F,Souza LAC,Shi J,Zhou T,Kehoe PG,Chen Q,Feng Earley Y

    更新日期:2020-11-01 00:00:00

  • Recombinant Adeno Associated Viral (AAV) vector type 9 delivery of Ex1-Q138-mutant huntingtin in the rat striatum as a short-time model for in vivo studies in drug discovery.

    abstract::Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by dyskinesia, cognitive impairment and emotional disturbances, presenting progressive neurodegeneration in the striatum and intracellular mutant Huntingtin (mHTT) aggregates in various areas of the brain. Recombinant Adeno Associated V...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2015.11.019

    authors: Ceccarelli I,Fiengo P,Remelli R,Miragliotta V,Rossini L,Biotti I,Cappelli A,Petricca L,La Rosa S,Caricasole A,Pollio G,Scali C

    更新日期:2016-02-01 00:00:00

  • TRIM9, a novel brain-specific E3 ubiquitin ligase, is repressed in the brain of Parkinson's disease and dementia with Lewy bodies.

    abstract::TRIM family proteins are involved in a broad range of biological processes, and their alteration results in many diverse pathological conditions found in genetic diseases, viral infections, and cancers. However, the spatial and temporal expression and function of TRIM9, one of TRIM family proteins, remain obscure. Our...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2010.01.007

    authors: Tanji K,Kamitani T,Mori F,Kakita A,Takahashi H,Wakabayashi K

    更新日期:2010-05-01 00:00:00

  • Proteomic signatures of brain regions affected by tau pathology in early and late stages of Alzheimer's disease.

    abstract:BACKGROUND:Alzheimer's disease (AD) is the most common neurodegenerative disorder. Depositions of amyloid β peptide (Aβ) and tau protein are among the major pathological hallmarks of AD. Aβ and tau burden follows predictable spatial patterns during the progression of AD. Nevertheless, it remains obscure why certain bra...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2019.104509

    authors: Mendonça CF,Kuras M,Nogueira FCS,Plá I,Hortobágyi T,Csiba L,Palkovits M,Renner É,Döme P,Marko-Varga G,Domont GB,Rezeli M

    更新日期:2019-10-01 00:00:00

  • Neurophysiology of the pedunculopontine tegmental nucleus.

    abstract::The interest in the pedunculopontine tegmental nucleus (PPTg), a structure located in the brainstem at the level of the pontomesencephalic junction, has greatly increased in recent years because it is involved in the regulation of physiological functions that fail in Parkinson's disease and because it is a promising t...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章,评审

    doi:10.1016/j.nbd.2018.03.004

    authors: Vitale F,Capozzo A,Mazzone P,Scarnati E

    更新日期:2019-08-01 00:00:00

  • p53 is abnormally elevated and active in the CNS of patients with amyotrophic lateral sclerosis.

    abstract::Motor neuron degeneration in amyotrophic lateral sclerosis (ALS) is a form of apoptosis, but the mechanisms for this neuronal cell death are not known. We evaluated whether motor neuron degeneration in ALS is associated with changes in the levels and function of the apoptosis regulating protein p53. The protein levels...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1006/nbdi.2000.0314

    authors: Martin LJ

    更新日期:2000-12-01 00:00:00

  • Reduced post-stroke glial scarring in the infant primate brain reflects age-related differences in the regulation of astrogliosis.

    abstract::Ischemic stroke remains a leading cause of disability worldwide. Surviving patients often suffer permanent neurological impairments, and spontaneous recovery rarely occurs. However, observations that early-life brain injuries, including strokes, elicit less severe long-term functional impairments, compared to adults, ...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2017.11.016

    authors: Teo L,Boghdadi AG,de Souza M,Bourne JA

    更新日期:2018-03-01 00:00:00

  • Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice.

    abstract::Mutations in the LRRK2 gene represent the most common genetic cause of late onset Parkinson's disease. The physiological and pathological roles of LRRK2 are yet to be fully determined but evidence points towards LRRK2 mutations causing a gain in kinase function, impacting on neuronal maintenance, vesicular dynamics an...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2015.02.031

    authors: Yue M,Hinkle KM,Davies P,Trushina E,Fiesel FC,Christenson TA,Schroeder AS,Zhang L,Bowles E,Behrouz B,Lincoln SJ,Beevers JE,Milnerwood AJ,Kurti A,McLean PJ,Fryer JD,Springer W,Dickson DW,Farrer MJ,Melrose HL

    更新日期:2015-06-01 00:00:00

  • Increased vulnerability of nigrostriatal terminals in DJ-1-deficient mice is mediated by the dopamine transporter.

    abstract::Mutations in the gene for DJ-1 have been associated with early-onset autosomal recessive parkinsonism. Previous studies of null DJ-1 mice have shown alterations in striatal dopamine (DA) transmission with no DAergic cell loss. Here we characterize a new line of DJ-1-deficient mice. A subtle locomotor deficit was prese...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2007.03.014

    authors: Manning-Boğ AB,Caudle WM,Perez XA,Reaney SH,Paletzki R,Isla MZ,Chou VP,McCormack AL,Miller GW,Langston JW,Gerfen CR,Dimonte DA

    更新日期:2007-08-01 00:00:00

  • Fmr1 deletion enhances and ultimately desensitizes CB(1) signaling in autaptic hippocampal neurons.

    abstract::Fragile X Syndrome (FXS) is a heritable form of mental retardation caused by a non-coding trinucleotide expansion of the FMR1 gene leading to loss of expression of this RNA binding protein. Mutations in this gene are strongly linked to enhanced Group I metabotropic glutamate receptor (mGluR) signaling. A recent report...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2013.04.002

    authors: Straiker A,Min KT,Mackie K

    更新日期:2013-08-01 00:00:00

  • Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6.

    abstract::Oxidative stress and protein aggregation are biochemical hallmarks of Parkinson's disease (PD), a frequent sporadic late-onset degenerative disorder particularly of dopaminergic neurons in the substantia nigra, resulting in impaired spontaneous movement. PARK6 is a rare autosomal-recessively inherited disorder, mimick...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2006.10.007

    authors: Hoepken HH,Gispert S,Morales B,Wingerter O,Del Turco D,Mülsch A,Nussbaum RL,Müller K,Dröse S,Brandt U,Deller T,Wirth B,Kudin AP,Kunz WS,Auburger G

    更新日期:2007-02-01 00:00:00

  • Particular vulnerability of rat mesencephalic dopaminergic neurons to tetrahydrobiopterin: Relevance to Parkinson's disease.

    abstract::We determined whether tetrahydrobiopterin(BH4), an endogenous cofactor for dopamine(DA) synthesis, causes preferential damage to DArgic neurons among primary cultured rat mesencephalic neurons and whether the death mechanism has relevance to Parkinson's disease (PD). DArgic neurons were more vulnerable to BH4 than non...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1016/j.nbd.2006.08.024

    authors: Lee SY,Moon Y,Hee Choi D,Jin Choi H,Hwang O

    更新日期:2007-01-01 00:00:00

  • Tardive dyskinetic syndrome in rats infected with Borna disease virus.

    abstract::Tardive Dyskinesia (TD) is a hyperkinetic movement disorder caused by chronic treatment of psychiatric patients with dopamine (DA) receptor blocking drugs (Stacy & Jankovic 1991). Although TD is one of the most important and frequently encountered iatrogenic disorders in clinical medicine, its pathophysiology is poorl...

    journal_title:Neurobiology of disease

    pub_type: 杂志文章

    doi:10.1006/nbdi.1994.0014

    authors: Solbrig MV,Koob GF,Fallon JH,Lipkin WI

    更新日期:1994-12-01 00:00:00