Research Topics
Genomes and Genes | Han Xiang DengSummaryAffiliation: Northwestern University Country: USA Publications
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Publications
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathyKourosh Rezania
Department of Neurology, The University of Chicago, 5841 S Maryland Ave MC2030, Chicago, IL 60637, USA
Amyotroph Lateral Scler Other Motor Neuron Disord 4:162-6. 2003..The incomplete disease penetrance seen with this mutation (and others reported in the literature) emphasizes the potential value for obtaining an SOD1 genotype in patients with ALS, even if there is no apparent family history...
Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model miceYoshiaki Furukawa
Department of Chemistry, Northwestern University, 2145 Sheridan Road, Evanston, IL 60208, USA
Proc Natl Acad Sci U S A 103:7148-53. 2006..The findings provide a biochemical basis for a pathological hallmark of this disease; namely, incorrect disulfide cross-linking of the immature, misfolded mutant proteins leads to insoluble aggregates...- Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutationsHan Xiang Deng
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Arch Neurol 68:1057-61. 2011..Mutations in optineurin have recently been linked to amyotrophic lateral sclerosis (ALS)... 
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4Han Xiang Deng
Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Nat Genet 42:165-9. 2010..Our findings link mutations in TRPV4 to altered calcium homeostasis and peripheral neuropathies, implying a pathogenic mechanism and possible options for therapy for these disorders...- Detection of protein aggregation in neurodegenerative diseasesHan Xiang Deng
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Methods Mol Biol 793:259-72. 2011..Using this method, we successfully detected some protein aggregates that escaped detection when other antigen-retrieval methods were employed... - Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondriaHan Xiang Deng
Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Tarry Building, Room 13 715, 303 East Chicago Avenue, Chicago, IL 60611, USA
Proc Natl Acad Sci U S A 103:7142-7. 2006..Importantly, rational therapy based on these observations can now be developed and tested... - Distal axonopathy in an alsin-deficient mouse modelHan Xiang Deng
Department of Neurology and Clinical Neurosciences, Northwestern University Institute for Neuroscience, Chicago, IL 60611, USA
Hum Mol Genet 16:2911-20. 2007.... - Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approachHan Xiang Deng
Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Hum Mol Genet 17:2310-9. 2008.... - FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosisHan Xiang Deng
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Chicago, IL 60611, USA
Ann Neurol 67:739-48. 2010..The pathogenic mechanism of the mutant FUS-mediated ALS and potential roles of FUS in non-FUS ALS remain to be investigated... - Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaHan Xiang Deng
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
Nature 477:211-5. 2011.... - Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathiesFaisal Fecto
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
J Biol Chem 286:17281-91. 2011.... - SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosisFaisal Fecto
Division of Neuromuscular Medicine, Ken and Ruth Davee Department of Neurology and Clinical Neurological Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
Arch Neurol 68:1440-6. 2011..The SQSTM1 gene encodes p62, a major pathologic protein involved in neurodegeneration... - Hyperactive intracellular calcium signaling associated with localized mitochondrial defects in skeletal muscle of an animal model of amyotrophic lateral sclerosisJingsong Zhou
Department of Molecular Biophysics and Physiology, Rush University Medical School, Chicago, Illinois 60612, USA
J Biol Chem 285:705-12. 2010..Our data reveal that mitochondria regulate Ca(2+) signaling in skeletal muscle, and loss of this capacity may contribute to the progression of muscle atrophy in ALS... - Restricted expression of mutant SOD1 in spinal motor neurons and interneurons induces motor neuron pathologyLijun Wang
Department of Neurology MC2030, The University of Chicago Pritzker School of Medicine, 5841 S Maryland Avenue, Chicago, IL 60637, USA
Neurobiol Dis 29:400-8. 2008..Mouse models similar to the one presented here will be valuable for spatially and temporally controlling expression of mutant genes involved in neurodegenerative diseases... - TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer diseaseEileen H Bigio
Cognitive Neurology and Alzheimer Disease Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Acta Neuropathol 120:43-54. 2010..Furthermore, medial temporal TDP-43 pathology is more tightly linked to HS than to clinical phenotype. These findings challenge the current notions about clinicopathologic correlation, especially about the role of multiple pathologies... - Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2Senda Ajroud-Driss
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Tarry Building, Room 13 715, 303 East Chicago Avenue, Chicago, IL 60611, USA
Curr Neurol Neurosci Rep 11:262-73. 2011..These genes have distinct functions, but some appear to be involved in common biological pathways, therefore, providing important clues for understanding the pathogenic mechanism of these heterogeneous disorders... - [Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6]Yu-Hu Zhang
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
Zhonghua Yi Xue Za Zhi 85:1538-41. 2005..However, dyskinesias related to levodopa treatment were absent. CONCLUSION: PINK1 gene mutations are a common cause of AREP. PARK6 pedigrees have been firstly identified in Chinese Mainland. Clinical heterogeneity exists in PARK6...
Research Grants
- TRANSGENIC STUDIES OF AMYOTROPHIC LATERAL SCLEROSISHan Xiang Deng; Fiscal Year: 2004..To achieve this goal we propose to develop additional transgenic mouse lines that over express successively smaller fragments of SOD 1 polypeptide to determine the smallest segment of SOD 1 that causes ALS. ..