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Journal of Clinical Investigation, ISSN 0021-9738, 04/2016, Volume 126, Issue 4, pp. 1525 - 1537
Autoimmune diseases affect 5% to 8% of the population, and females are more susceptible to these diseases than males. Here, we analyzed human thymic... 
MEDICINE, RESEARCH & EXPERIMENTAL | CANDIDIASIS-ECTODERMAL DYSTROPHY | TISSUE ANTIGEN GENES | MESSENGER-RNA | THYMIC EPITHELIAL-CELLS | THYROTROPIN RECEPTOR | ANIMAL-MODELS | CENTRAL TOLERANCE | DEFICIENT MICE | MYASTHENIA-GRAVIS | T-CELLS | Humans | Middle Aged | Child, Preschool | Infant | Male | Autoimmune Diseases - genetics | DNA Methylation | Estrogens - genetics | Adult | Estrogen Receptor alpha - metabolism | Female | Estrogens - metabolism | Thymus Gland - metabolism | Autoimmune Diseases - metabolism | Child | Cells, Cultured | Gene Expression Regulation | Transcription Factors - biosynthesis | Sex Characteristics | Transcription Factors - genetics | Mice, Inbred C3H | Animals | Estrogen Receptor alpha - genetics | Adolescent | CpG Islands | Mice | Antigens | Epigenetic inheritance | RNA | Estrogen | Phenols | B cells | Hormones | Autoimmune diseases | Transcription factors | Development and progression | Genetic aspects | Genetic regulation | Properties | Health aspects | Flow cytometry | Disease | Males | Experiments | Proteins | Studies | Keratin | Hypotheses | Lymphocytes | Protein expression | Agreements | Laboratory animals | Females | Index Medicus | Abridged Index Medicus | Thymus Gland | Estrogens | Life Sciences | Human health and pathology | Estrogen Receptor alpha | Autoimmune Diseases | Transcription Factors
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2006, Volume 103, Issue 47, pp. 17684 - 17689
Journal Article
Molecular Therapy, ISSN 1525-0016, 09/2017, Volume 25, Issue 9, pp. 2038 - 2052
One of the most promising therapeutic approaches for familial amyotrophic lateral sclerosis linked to superoxide dismutase 1 (SOD1) is the suppression of toxic... 
ALS | hSOD1 | gene therapy | exon skipping | AAV | MOTOR-NEURONS | MEDICINE, RESEARCH & EXPERIMENTAL | EARLY PATHOGENESIS | ANTISENSE OLIGONUCLEOTIDE | AMYOTROPHIC-LATERAL-SCLEROSIS | SOD1 | SKELETAL-MUSCLE | EXTENDS SURVIVAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | NONSENSE-MEDIATED DECAY | HEMOPHILIA-B | GENETICS & HEREDITY | SUPEROXIDE-DISMUTASE | Dependovirus - genetics | Amyotrophic Lateral Sclerosis - physiopathology | Genetic Vectors - administration & dosage | Exons | Humans | RNA, Messenger - metabolism | Recovery of Function | Superoxide Dismutase-1 - metabolism | Gene Order | Disease Models, Animal | Gene Transfer Techniques | Oligonucleotides, Antisense | RNA Splice Sites | Transduction, Genetic | Amyotrophic Lateral Sclerosis - therapy | Amyotrophic Lateral Sclerosis - genetics | RNA, Messenger - genetics | Mice, Transgenic | Survival Rate | Genetic Vectors - genetics | Amyotrophic Lateral Sclerosis - mortality | Motor Activity - genetics | Animals | Age of Onset | Superoxide Dismutase-1 - genetics | Mice | Genetic Therapy - methods | Spinal cord | Intravenous administration | Transcription | Nonsense mutation | Motor ability | Amyotrophic lateral sclerosis | Superoxide dismutase | Antisense | Superoxide | Body weight loss | Gene expression | Survival | Vectors (Biology) | Sclerosis | Proteins | Surveillance | Exon skipping | Gene therapy | Age | Evacuations & rescues | Index Medicus | Original
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2011, Volume 20, Issue 4, pp. 681 - 693
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 11/2014, Volume 128, Issue 5, pp. 705 - 722
There is still no treatment for polyglutamine disorders, but clearance of mutant proteins might represent a potential therapeutic strategy. Autophagy, the... 
Pathology | Neurosciences | Medicine & Public Health | SCA7 knock-in mouse | Lysosome | Transcriptome | Ataxia | Autophagy | Patients | NEURODEGENERATIVE DISEASE | POLYGLUTAMINE | BECLIN 1 | ALZHEIMERS-DISEASE | AGGREGATE-PRONE PROTEINS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUTANT ATAXIN-7 | SPINOCEREBELLAR ATAXIAS | MACHADO-JOSEPH-DISEASE | GENETIC MOUSE MODELS | HUNTINGTONS-DISEASE | Leukocytes, Mononuclear - metabolism | TOR Serine-Threonine Kinases - metabolism | Humans | Ataxin-7 | Male | Autophagy - physiology | Trinucleotide Repeats - genetics | Case-Control Studies | Small Ubiquitin-Related Modifier Proteins - genetics | Lysosomes - metabolism | TOR Serine-Threonine Kinases - genetics | Apoptosis Regulatory Proteins - genetics | Female | Lysosomes - pathology | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Nerve Tissue Proteins - ultrastructure | Spinocerebellar Ataxias - genetics | Beclin-1 | Gene Expression Regulation - genetics | Membrane Proteins - genetics | Small Ubiquitin-Related Modifier Proteins - metabolism | Mice, Transgenic | Signal Transduction - genetics | Spinocerebellar Ataxias - pathology | Nerve Tissue Proteins - genetics | Apoptosis Regulatory Proteins - metabolism | Lysosomes - ultrastructure | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Leukocytes, Mononuclear - pathology | Animals | Carrier Proteins - metabolism | Brain - pathology | Mice | Cell Line, Transformed | Ubiquitin | Brain | Nervous system diseases | Health aspects | Analysis | Index Medicus
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 08/2016, Volume 132, Issue 2, p. 257
  Endosomal-autophagic-lysosomal (EAL) dysfunction is an early and prominent neuropathological feature of Alzheimers's disease, yet the exact molecular... 
Brain | Proteolysis | Alzheimer's disease | Analysis | Neurophysiology
Journal Article
Journal Article
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2016, Volume 99, pp. 1 - 11
Abstract Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (... 
Neurology | Mecp2