The Experts below are selected from a list of 6588 Experts worldwide ranked by ideXlab platform
Daniel Eriksson - One of the best experts on this subject based on the ideXlab platform.
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Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
The Journal of clinical endocrinology and metabolism, 2017Co-Authors: Daniel Eriksson, Åsa Hallgren, Nils Landegren, Jeanette Wahlberg, Frida Dalin, Gabriel Nordling Eriksson, Matteo Bianchi, Per Dahlqvist, Olov Ekwall, Ola WinqvistAbstract:Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features autoimmune Addison disease as a major component. Although APS1 accounts for only a small fraction of a ...
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Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
Scientific reports, 2016Co-Authors: Nils Landegren, Åsa Hallgren, Sophie Bensing, Donald Sharon, Eva Freyhult, Daniel Eriksson, Per-henrik Edqvist, Jeanette Wahlberg, Lawrence M. Nelson, Jan GustafssonAbstract:Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1. Interrogation of established autoantigens revealed highly reliable detection of autoantibodies, and by exploring the full panel of more than 9000 proteins we further identified MAGEB2 and PDILT as novel major autoantigens in APS1. Our proteome-wide assessment revealed a marked enrichment for tissue-specific immune targets, mirroring AIRE’s selectiveness for this category of genes. Our findings also suggest that only a very limited portion of the proteome becomes targeted by the immune system in APS1, which contrasts the broad defect of thymic presentation associated with AIRE-deficiency and raises novel questions what other factors are needed for break of tolerance.
Nils Landegren - One of the best experts on this subject based on the ideXlab platform.
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Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
The Journal of clinical endocrinology and metabolism, 2017Co-Authors: Daniel Eriksson, Åsa Hallgren, Nils Landegren, Jeanette Wahlberg, Frida Dalin, Gabriel Nordling Eriksson, Matteo Bianchi, Per Dahlqvist, Olov Ekwall, Ola WinqvistAbstract:Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features autoimmune Addison disease as a major component. Although APS1 accounts for only a small fraction of a ...
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Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
Scientific reports, 2016Co-Authors: Nils Landegren, Åsa Hallgren, Sophie Bensing, Donald Sharon, Eva Freyhult, Daniel Eriksson, Per-henrik Edqvist, Jeanette Wahlberg, Lawrence M. Nelson, Jan GustafssonAbstract:Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1. Interrogation of established autoantigens revealed highly reliable detection of autoantibodies, and by exploring the full panel of more than 9000 proteins we further identified MAGEB2 and PDILT as novel major autoantigens in APS1. Our proteome-wide assessment revealed a marked enrichment for tissue-specific immune targets, mirroring AIRE’s selectiveness for this category of genes. Our findings also suggest that only a very limited portion of the proteome becomes targeted by the immune system in APS1, which contrasts the broad defect of thymic presentation associated with AIRE-deficiency and raises novel questions what other factors are needed for break of tolerance.
K M Gibson - One of the best experts on this subject based on the ideXlab platform.
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succinic semialdehyde dehydrogenase deficiency ssadhd pathophysiological complexity and multifactorial trait associations in a rare Monogenic Disorder of gaba metabolism
Neurochemistry International, 2016Co-Authors: P Malaspina, Jeanbaptiste Roullet, Phillip L Pearl, Garrett R Ainslie, Kara R Vogel, K M GibsonAbstract:Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second step of the GABA degradative pathway. Some 200 patients have been reported, with broad phenotypic and genotypic heterogeneity. SSADHD represents an unusual neurometabolic Disorder in which two neuromodulatory agents, GABA (and the GABA analogue, 4-hydroxybutyrate), accumulate to supraphysiological levels. The unexpected occurrence of epilepsy in several patients is counterintuitive in view of the hyperGABAergic state, in which sedation might be expected. However, the epileptic status of some patients is most likely represented by broader imbalances of GABAergic and glutamatergic neurotransmission. Cumulative research encompassing decades of basic and clinical study of SSADHD reveal a Monogenic disease with broad pathophysiological and clinical phenotypes. Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm. While seemingly difficult to collate and interpret, these anomalies have continued to open novel pathways for pharmacotherapeutic considerations. Here, we present an update on selected aspects of SSADHD, the ALDH5A1 gene, and future avenues for research on this rare Disorder of GABA metabolism.
Åsa Hallgren - One of the best experts on this subject based on the ideXlab platform.
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Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
The Journal of clinical endocrinology and metabolism, 2017Co-Authors: Daniel Eriksson, Åsa Hallgren, Nils Landegren, Jeanette Wahlberg, Frida Dalin, Gabriel Nordling Eriksson, Matteo Bianchi, Per Dahlqvist, Olov Ekwall, Ola WinqvistAbstract:Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features autoimmune Addison disease as a major component. Although APS1 accounts for only a small fraction of a ...
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Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
Scientific reports, 2016Co-Authors: Nils Landegren, Åsa Hallgren, Sophie Bensing, Donald Sharon, Eva Freyhult, Daniel Eriksson, Per-henrik Edqvist, Jeanette Wahlberg, Lawrence M. Nelson, Jan GustafssonAbstract:Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1. Interrogation of established autoantigens revealed highly reliable detection of autoantibodies, and by exploring the full panel of more than 9000 proteins we further identified MAGEB2 and PDILT as novel major autoantigens in APS1. Our proteome-wide assessment revealed a marked enrichment for tissue-specific immune targets, mirroring AIRE’s selectiveness for this category of genes. Our findings also suggest that only a very limited portion of the proteome becomes targeted by the immune system in APS1, which contrasts the broad defect of thymic presentation associated with AIRE-deficiency and raises novel questions what other factors are needed for break of tolerance.
Jeanette Wahlberg - One of the best experts on this subject based on the ideXlab platform.
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Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
The Journal of clinical endocrinology and metabolism, 2017Co-Authors: Daniel Eriksson, Åsa Hallgren, Nils Landegren, Jeanette Wahlberg, Frida Dalin, Gabriel Nordling Eriksson, Matteo Bianchi, Per Dahlqvist, Olov Ekwall, Ola WinqvistAbstract:Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features autoimmune Addison disease as a major component. Although APS1 accounts for only a small fraction of a ...
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Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
Scientific reports, 2016Co-Authors: Nils Landegren, Åsa Hallgren, Sophie Bensing, Donald Sharon, Eva Freyhult, Daniel Eriksson, Per-henrik Edqvist, Jeanette Wahlberg, Lawrence M. Nelson, Jan GustafssonAbstract:Autoimmune polyendocrine syndrome type 1 (APS1) is a Monogenic Disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1. Interrogation of established autoantigens revealed highly reliable detection of autoantibodies, and by exploring the full panel of more than 9000 proteins we further identified MAGEB2 and PDILT as novel major autoantigens in APS1. Our proteome-wide assessment revealed a marked enrichment for tissue-specific immune targets, mirroring AIRE’s selectiveness for this category of genes. Our findings also suggest that only a very limited portion of the proteome becomes targeted by the immune system in APS1, which contrasts the broad defect of thymic presentation associated with AIRE-deficiency and raises novel questions what other factors are needed for break of tolerance.
