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Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.

Peter Hermann, Brian Appleby, Jean-Philippe Brandel, Byron Caughey, Steven Collins, Michael D Geschwind, Alison Green, Stephane Haïk, Gabor G Kovacs, Anna Ladogana, Franc Llorens, Simon Mead, Noriyuki Nishida, Suvankar Pal, Piero Parchi, Maurizio Pocchiari, Katsuya Satoh, Gianluigi Zanusso, Inga Zerr,

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP<sup>Sc</sup>). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):235-246]

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Ecto-GPR37: a potential biomarker for Parkinson's disease.

Xavier Morató, Paula Garcia-Esparcia, Josep Argerich, Franc Llorens, Inga Zerr, Wojciech Paslawski, Eva Borràs, Eduard Sabidó, Ulla E Petäjä-Repo, Víctor Fernández-Dueñas, Isidro Ferrer, Per Svenningsson, Francisco Ciruela,

<h4>Objective</h4>α-Synuclein has been studied as a potential biomarker for Parkinson's disease (PD) with no concluding results. Accordingly, there is an urgent need to find out reliable specific biomarkers for PD. GPR37 is an orphan G protein-coupled receptor that toxically accumulates in autosomal recessive juvenile parkinsonism. Here, we investigated whether GPR37 ... Read more >>

Transl Neurodegener (Translational neurodegeneration)
[2021, 10(1):8]

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RT-QuIC for detection of prodromal α-synucleinopathies.

Inga Zerr,

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):165-166]

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Altered mRNA and Protein Expression of Monocarboxylate Transporter MCT1 in the Cerebral Cortex and Cerebellum of Prion Protein Knockout Mice.

Sanja Ramljak, Matthias Schmitz, Cendrine Repond, Inga Zerr, Luc Pellerin,

The effect of a cellular prion protein (PrP<sup>c</sup>) deficiency on neuroenergetics was primarily analyzed via surveying the expression of genes specifically involved in lactate/pyruvate metabolism, such as monocarboxylate transporters (<i>MCT1</i>, <i>MCT2</i>, <i>MCT4</i>). The aim of the present study was to elucidate a potential involvement of PrP<sup>c</sup> in the regulation of ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2021, 22(4):]

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Neurodegenerative Proteinopathies in the Proteoform Spectrum-Tools and Challenges.

Aneeqa Noor, Saima Zafar, Inga Zerr,

Proteinopathy refers to a group of disorders defined by depositions of amyloids within living tissue. Neurodegenerative proteinopathies, including Alzheimer's disease, Parkinson's disease, Creutzfeldt-Jakob disease, and others, constitute a large fraction of these disorders. Amyloids are highly insoluble, ordered, stable, beta-sheet rich proteins. The emerging theory about the pathophysiology of neurodegenerative ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2021, 22(3):]

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Optimization of the Real-Time Quaking-Induced Conversion Assay for Prion Disease Diagnosis.

Inga Zerr, Maria Cramm, Susana Margarida da Silva Correia, Saima Zafar, Anna Villar-Piqué, Franc Llorens, Matthias Schmitz,

The real-time quaking-induced conversion (RT-QuIC) assay is a highly reproducible and robust methodology exhibiting an excellent pre-mortem diagnostic accuracy for prion diseases. However, the protocols might be time-consuming and improvement of the detection technology is needed. In the present study, we investigated the influence of a pre-analytical cerebrospinal fluid (CSF) ... Read more >>

Front Bioeng Biotechnol (Frontiers in bioengineering and biotechnology)
[2020, 8:586890]

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Genetic prion disease: opportunities for early therapeutic intervention with rigorous pre-symptomatic trials.

Peter Hermann, Jan C Koch, Inga Zerr,

Expert Opin Investig Drugs (Expert opinion on investigational drugs)
[2020, 29(12):1313-1316]

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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Emma Jones, Holger Hummerich, Emmanuelle Viré, James Uphill, Athanasios Dimitriadis, Helen Speedy, Tracy Campbell, Penny Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akin Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros, Gabor G Kovacs, Michael D Geschwind, Aili Golubjatnikov, Karl Frontzek, Herbert Budka, Adriano Aguzzi, Hata Karamujić-Čomić, Sven J van der Lee, Carla A Ibrahim-Verbaas, Cornelia M van Duijn, Beata Sikorska, Ewa Golanska, Pawel P Liberski, Miguel Calero, Olga Calero, Pascual Sanchez-Juan, Antonio Salas, Federico Martinón-Torres, Elodie Bouaziz-Amar, Stéphane Haïk, Jean-Louis Laplanche, Jean-Phillipe Brandel, Phillipe Amouyel, Jean-Charles Lambert, Piero Parchi, Anna Bartoletti-Stella, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Serena Aneli, Giuseppe Matullo, Richard Knight, Saima Zafar, Inga Zerr, Stephanie Booth, Michael B Coulthart, Gerard H Jansen, Katie Glisic, Janis Blevins, Pierluigi Gambetti, Jiri Safar, Brian Appleby, John Collinge, Simon Mead,

<h4>Background</h4>Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but, although the condition has similar heritability to other neurodegenerative disorders, no other genetic risk loci ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2020, 19(10):840-848]

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Corrigendum: Figural Memory Impairment in Conjunction With Neuropsychiatric Symptoms in IgLON5 Antibody-Associated Autoimmune Encephalitis.

Niels Hansen, Sina Hirschel, Winfried Stöcker, Anja Manig, Hannah Sönne Falk, Marielle Ernst, Ruth Vukovich, Inga Zerr, Jens Wiltfang, Claudia Bartels,

[This corrects the article DOI: 10.3389/fpsyt.2020.00576.]. ... Read more >>

Front Psychiatry (Frontiers in psychiatry)
[2020, 11:589466]

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Cerebrospinal Fluid Mitochondrial DNA in Rapid and Slow Progressive Forms of Alzheimer's Disease.

Petar Podlesniy, Franc Llorens, Margalida Puigròs, Nuria Serra, Diego Sepúlveda-Falla, Christian Schmidt, Peter Hermann, Inga Zerr, Ramon Trullas,

Alzheimer's type dementia (AD) exhibits clinical heterogeneity, as well as differences in disease progression, as a subset of patients with a clinical diagnosis of AD progresses more rapidly (rpAD) than the typical AD of slow progression (spAD). Previous findings indicate that low cerebrospinal fluid (CSF) content of cell-free mitochondrial DNA ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(17):]

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Unveiling the Physical and Functional Niches of FAM26F by Analyzing Its Subcellular Localization and Novel Interacting Partners.

Uzma Malik, Saima Zafar, Neelam Younas, Inga Zerr, Aneela Javed,

The knowledge of a protein's subcellular localization and interacting partners are crucial for elucidating its cellular function and associated regulatory networks. Although FAM26F (family with sequence similarity 26, member F) has been recognized as a vital player in various infections, stimulation studies, cancer, and immune pathogenesis, the precise location and ... Read more >>

ACS Omega (ACS omega)
[2020, 5(35):22008-22020]

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Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study.

Hana Saddiki, Aurore Fayosse, Emmanuel Cognat, Séverine Sabia, Sebastiaan Engelborghs, David Wallon, Panagiotis Alexopoulos, Kaj Blennow, Henrik Zetterberg, Lucilla Parnetti, Inga Zerr, Peter Hermann, Audrey Gabelle, Mercè Boada, Adelina Orellana, Itziar de Rojas, Matthieu Lilamand, Maria Bjerke, Christine Van Broeckhoven, Lucia Farotti, Nicola Salvadori, Janine Diehl-Schmid, Timo Grimmer, Claire Hourregue, Aline Dugravot, Gaël Nicolas, Jean-Louis Laplanche, Sylvain Lehmann, Elodie Bouaziz-Amar, , Jacques Hugon, Christophe Tzourio, Archana Singh-Manoux, Claire Paquet, Julien Dumurgier,

<h4>Background</h4>The ε4 allele of apolipoprotein E (APOE) gene and increasing age are two of the most important known risk factors for developing Alzheimer disease (AD). The diagnosis of AD based on clinical symptoms alone is known to have poor specificity; recently developed diagnostic criteria based on biomarkers that reflect underlying ... Read more >>

PLoS Med (PLoS medicine)
[2020, 17(8):e1003289]

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Sporadic Creutzfeldt-Jakob Disease among Physicians, Germany, 1993-2018.

Peter Hermann, Johannes Treig, Steffen Unkel, Stefan Goebel, Timothy Bunck, Martha Jünemann, Tim Friede, Inga Zerr,

We investigated sporadic Creutzfeldt-Jakob disease (sCJD) among physicians in Germany by analyzing occupational information of patients with sCJD recorded by the German CJD Surveillance Unit (1993-2005; 1,250 patients, of whom 4 [0.32%] were physicians) and the National Reference Center for Human Spongiform Encephalopathies (2006-2016; 1,491 patients, of whom 13 [0.87%] ... Read more >>

Emerg Infect Dis (Emerging infectious diseases)
[2020, 26(8):]

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A prognostic model for overall survival in sporadic Creutzfeldt-Jakob disease.

Franc Llorens, Nicole Rübsamen, Peter Hermann, Matthias Schmitz, Anna Villar-Piqué, Stefan Goebel, André Karch, Inga Zerr,

<b>Introduction: </b>We developed a prognostic model for overall survival after diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) using data from a German surveillance study.<br><br><b>Methods: </b>We included 1226 sCJD cases (median age 66 years, range 19-89 years; 56.8% women with information on age, sex, codon 129 genotype, 14-3-3 in the cerebrospinal fluid ... Read more >>

Alzheimers Dement (Alzheimer's & dementia : the journal of the Alzheimer's Association)
[2020, 16(10):1438-1447]

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Figural Memory Impairment in Conjunction With Neuropsychiatric Symptoms in IgLON5 Antibody-Associated Autoimmune Encephalitis.

Niels Hansen, Sina Hirschel, Winfried Stöcker, Anja Manig, Hannah Sönne Falk, Marielle Ernst, Ruth Vukovich, Inga Zerr, Jens Wiltfang, Claudia Bartels,

<h4>Background</h4>IgLON5 disease is an autoimmune disorder that shares neuropathological aspects with a tauopathy. Its clinical spectrum is heterogeneous, and figural memory impairment as an initial phenomenon of IgLON5 syndrome has not yet been described. The rationale of this report is to highlight symptoms related to IgLON5 disease that have not ... Read more >>

Front Psychiatry (Frontiers in psychiatry)
[2020, 11:576]

Cited: 2 times

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SFPQ and Tau: critical factors contributing to rapid progression of Alzheimer's disease.

Neelam Younas, Saima Zafar, Mohsin Shafiq, Aneeqa Noor, Anna Siegert, Amandeep Singh Arora, Alexey Galkin, Ayesha Zafar, Mathias Schmitz, Christine Stadelmann, Olivier Andreoletti, Isidre Ferrer, Inga Zerr,

Dysfunctional RNA-binding proteins (RBPs) have been implicated in several neurodegenerative disorders. Recently, this paradigm of RBPs has been extended to pathophysiology of Alzheimer's disease (AD). Here, we identified disease subtype specific variations in the RNA-binding proteome (RBPome) of sporadic AD (spAD), rapidly progressive AD (rpAD), and sporadic Creutzfeldt Jakob disease ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 140(3):317-339]

Cited: 3 times

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RNAs in Brain and Heart Diseases.

Dimitris Beis, Inga Zerr, Fabio Martelli, Wolfram Doehner, Yvan Devaux,

In the era of single-cell analysis, one always has to keep in mind the systemic nature of various diseases and how these diseases could be optimally studied. Comorbidities of the heart in neurological diseases as well as of the brain in cardiovascular diseases are prevalent, but how interactions in the ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(10):]

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Disease-Specific Changes in Reelin Protein and mRNA in Neurodegenerative Diseases.

Laia Lidón, Laura Urrea, Franc Llorens, Vanessa Gil, Ignacio Alvarez, Monica Diez-Fairen, Miguel Aguilar, Pau Pastor, Inga Zerr, Daniel Alcolea, Alberto Lleó, Enric Vidal, Rosalina Gavín, Isidre Ferrer, Jose Antonio Del Rio,

Reelin is an extracellular glycoprotein that modulates neuronal function and synaptic plasticity in the adult brain. Decreased levels of Reelin activity have been postulated as a key factor during neurodegeneration in Alzheimer´s disease (AD) and in aging. Thus, changes in levels of full-length Reelin and Reelin fragments have been revealed ... Read more >>

Cells (Cells)
[2020, 9(5):]

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Increased alpha-synuclein tear fluid levels in patients with Parkinson's disease.

Fabian Maass, Sebastian Rikker, Vivian Dambeck, Carmina Warth, Lars Tatenhorst, Ilona Csoti, Matthias Schmitz, Inga Zerr, Andreas Leha, Mathias Bähr, Paul Lingor,

The objective of the study was to estimate if altered levels of alpha-synuclein can be detected in tear fluid of patients with Parkinson's disease (PD). Therefore, tear fluid samples of 75 PD patients, 75 control subjects and 31 atypical Parkinsonian patients were collected and analyzed in triplicates using an ultra-sensitive ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):8507]

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A new tetra-plex fluorimetric assay for the quantification of cerebrospinal fluid β-amyloid42, total-tau, phospho-tau and α-synuclein in the differential diagnosis of neurodegenerative dementia.

Daniela Diaz-Lucena, Geòrgia Escaramis, Anna Villar-Piqué, Peter Hermann, Matthias Schmitz, Daniela Varges, Isabel Santana, José Antonio Del Rio, Eulàlia Martí, Isidre Ferrer, Inês Baldeiras, Inga Zerr, Franc Llorens,

BACKGROUND:Differential diagnosis of neurodegenerative dementia is currently supported by biomarkers including cerebrospinal fluid (CSF) tests. Among them, CSF total-tau (t-tau), phosphorylated tau (p-tau) and β-amyloid42 (Aβ42) are considered core biomarkers of neurodegeneration. In the present work, we hypothesize that simultaneous assessment of these biomarkers together with CSF α-synuclein (α-syn) will ... Read more >>

J Neurol (Journal of neurology)
[2020, 267(9):2567-2581]

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BAMBI and CHGA in Prion Diseases: Neuropathological Assessment and Potential Role as Disease Biomarkers.

Óscar López-Pérez, Marcos Bernal-Martín, Adelaida Hernaiz, Franc Llorens, Marina Betancor, Alicia Otero, Janne Markus Toivonen, Pilar Zaragoza, Inga Zerr, Juan José Badiola, Rosa Bolea, Inmaculada Martín-Burriel,

Prion diseases affect both animals and humans. Research in the natural animal model of the disease could help in the understanding of neuropathological mechanisms and in the development of biomarkers for human pathologies. For this purpose, we studied the expression of 10 genes involved in prion propagation in vitro in ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(5):]

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Cerebrospinal fluid neurogranin as a new player in prion disease diagnosis and prognosis.

Anna Villar-Pique, Inga Zerr, Franc Llorens,

Neural Regen Res (Neural regeneration research)
[2020, 15(5):861-862]

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Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in STX6 and GAL3ST1

Emma Jones, Holger Hummerich, Emmanuelle Viré, James Uphill, Athanasios Dimitriadis, Helen Speedy, Tracy Campbell, Penny Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akin Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros, Gabor Kovacs, Michael Geschwind, Aili Golubjatnikov, Karl Fronztek, Herbert Budka, Adriano Aguzzi, Hata Karamujić-Čomić, Sven van der Lee, Carla Ibrahim-Verbaas, Cornelia Van Duijn, Beata Sikorska, Ewa Golanska, Pawel Liberski, Miguel Calero, Olga Calero, Pascual Sanchez Juan, Antonio Salas, Federico Martinón-Torres, Elodie Bouaziz-Amar, Stephane Haik, Jean-Louis Laplanche, Jean-Phillipe Brandel, Phillipe Amouyel, Jean-Charles Lambert, Piero Parchi, Anna Bartoletti-Stella, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Serena Aneli, Giuseppe Matullo, Richard Knight, Saima Zafar, Inga Zerr, Stephanie Booth, Michael Coulthart, Gerard Jansen, Katie Glisic, Janis Blevins, Pierluigi Gambetti, Jiri Safar, Brian Appleby, John Collinge, Simon Mead,

Mammalian prions are lethal pathogens composed of fibrillar assemblies of misfolded prion protein. Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the gene that encodes prion protein ( PRNP ) are strong risk factors for sCJD, but ... Read more >>

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Diagnostic Accuracy of Prion Disease Biomarkers in Iatrogenic Creutzfeldt-Jakob Disease.

Franc Llorens, Anna Villar-Piqué, Peter Hermann, Matthias Schmitz, Olga Calero, Christiane Stehmann, Shannon Sarros, Fabio Moda, Isidre Ferrer, Anna Poleggi, Maurizio Pocchiari, Marcella Catania, Sigrid Klotz, Carl O'Regan, Francesca Brett, Josephine Heffernan, Anna Ladogana, Steven J Collins, Miguel Calero, Gabor G Kovacs, Inga Zerr,

Human prion diseases are classified into sporadic, genetic, and acquired forms. Within this last group, iatrogenic Creutzfeldt-Jakob disease (iCJD) is caused by human-to-human transmission through surgical and medical procedures. After reaching an incidence peak in the 1990s, it is believed that the iCJD historical period is probably coming to an ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(2):]

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A new tetra-plex fluorimetric assay for the quantification of cerebrospinal fluid β-amyloid42, total-tau, phospho-tau and α-synuclein in the differential diagnosis of neurodegenerative dementia.

Daniela Diaz Lucena, Geòrgia Escaramis, Anna Villar-Piqué, Peter Hermann, Matthias Schmitz, Daniela Varges, Isabel Santana, José Antonio del Rio, Eulàlia Martí, Isidre Ferrer, Inês Baldeiras, Inga Zerr, Franc Llorens,

<h4>Background: </h4> Differential diagnosis of neurodegenerative dementia is currently supported by biomarkers including cerebrospinal fluid (CSF) tests. Among them, CSF total-tau (t-tau), phosphorylated tau (p-tau) and β-amyloid42 (Aβ42) are considered core biomarkers of neurodegeneration. In the present work, we hypothesize that simultaneous assessment of these biomarkers together with CSF α-synuclein ... Read more >>

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