Han Xiang Deng

Summary

Affiliation: Northwestern University
Country: USA

Publications

  1. ncbi request reprint A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy
    Kourosh 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
  2. pmc Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice
    Yoshiaki Furukawa
    Department of Chemistry, Northwestern University, 2145 Sheridan Road, Evanston, IL 60208, USA
    Proc Natl Acad Sci U S A 103:7148-53. 2006
  3. pmc Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations
    Han 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
  4. pmc Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
    Han Xiang Deng
    Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    Nat Genet 42:165-9. 2010
  5. doi request reprint Detection of protein aggregation in neurodegenerative diseases
    Han 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
  6. pmc Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria
    Han 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
  7. ncbi request reprint Distal axonopathy in an alsin-deficient mouse model
    Han Xiang Deng
    Department of Neurology and Clinical Neurosciences, Northwestern University Institute for Neuroscience, Chicago, IL 60611, USA
    Hum Mol Genet 16:2911-20. 2007
  8. pmc Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach
    Han 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
  9. doi request reprint FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis
    Han Xiang Deng
    Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Chicago, IL 60611, USA
    Ann Neurol 67:739-48. 2010
  10. pmc Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    Han 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

Research Grants

Collaborators

Detail Information

Publications17

  1. ncbi request reprint A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy
    Kourosh 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...
  2. pmc Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice
    Yoshiaki 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...
  3. pmc Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations
    Han 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)...
  4. pmc Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
    Han 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...
  5. doi request reprint Detection of protein aggregation in neurodegenerative diseases
    Han 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...
  6. pmc Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria
    Han 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...
  7. ncbi request reprint Distal axonopathy in an alsin-deficient mouse model
    Han Xiang Deng
    Department of Neurology and Clinical Neurosciences, Northwestern University Institute for Neuroscience, Chicago, IL 60611, USA
    Hum Mol Genet 16:2911-20. 2007
    ....
  8. pmc Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach
    Han 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
    ....
  9. doi request reprint FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis
    Han 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...
  10. pmc Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    Han 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
    ....
  11. pmc Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies
    Faisal 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
    ....
  12. doi request reprint SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
    Faisal 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...
  13. pmc Hyperactive intracellular calcium signaling associated with localized mitochondrial defects in skeletal muscle of an animal model of amyotrophic lateral sclerosis
    Jingsong 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...
  14. ncbi request reprint Restricted expression of mutant SOD1 in spinal motor neurons and interneurons induces motor neuron pathology
    Lijun 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...
  15. pmc TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer disease
    Eileen 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...
  16. doi request reprint Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2
    Senda 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...
  17. ncbi request reprint [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
    ..To detect PINK1 gene mutations and study the clinical features in Chinese patients with autosomal recessive early-onset parkinsonism (AREP) type 6...

Research Grants4

  1. TRANSGENIC STUDIES OF AMYOTROPHIC LATERAL SCLEROSIS
    Han 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. ..