Research Topics
Genomes and Genes
| Robert H BalohSummaryAffiliation: Washington University School of Medicine Country: USA Publications
| Collaborators
|
Detail Information
Publications
TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degenerationRobert H Baloh
Neuromuscular Division, Department of Neurology, Hope Center for Neurological Disorders, Washington University, Saint Louis, MO 63110, USA
FEBS J 278:3539-49. 2011..This review discusses observations from human pathology, cell culture and animal model systems, to highlight our somewhat murky understanding of the relationship between TDP-43 aggregation and neurodegeneration...
Mitochondrial dynamics and peripheral neuropathyRobert H Baloh
Hope Center for Neurological Disorders, Washington University, Saint Louis, Missouri 63110, USA
Neuroscientist 14:12-8. 2008....- Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutationRobert H Baloh
Department of Neurology, and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 29:2312-21. 2009.... - Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degenerationAlbert L Misko
Department of Neurology and Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
J Neurosci 32:4145-55. 2012.... - Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complexAlbert Misko
Department of Neurology and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 30:4232-40. 2010.... - Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathyMatthew B Harms
Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
Ann Neurol 71:407-16. 2012..To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles... - TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degenerationIga Wegorzewska
Department of Neurology and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 106:18809-14. 2009.... - Schwann cell mitochondrial metabolism supports long-term axonal survival and peripheral nerve functionAndreu Viader
Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 31:10128-40. 2011..Mitochondrial function in SCs is therefore essential for maintenance of axonal survival and normal peripheral nerve function, suggesting that SC mitochondrial dysfunction contributes to human peripheral neuropathies... - Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal lossElizabeth J Ryu
Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 27:11552-9. 2007..Our findings establish the importance of identifying factor(s) responsible for Pou3f1 downregulation during myelination, because they may play important roles in the development of peripheral neuropathies... - Sir-two-homolog 2 (Sirt2) modulates peripheral myelination through polarity protein Par-3/atypical protein kinase C (aPKC) signalingBogdan Beirowski
Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 108:E952-61. 2011..These results demonstrate that Sirt2 controls an essential polarity pathway in SCs during myelin assembly and provide insights into the association between intracellular metabolism and SC plasticity... - Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43Rodrigo A Fuentealba
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Biol Chem 285:26304-14. 2010.... - Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivoYo Sasaki
Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 29:6526-34. 2009..These results highlight the importance of understanding the mechanism of Nmnat-mediated axonal protection for the development of new treatment strategies for neurological disorders... - Implications of the prion-related Q/N domains in TDP-43 and FUSMaria Udan
Department of Neurology, Neuromuscular Division, Washington University, Saint Louis, MO, USA
Prion 5:1-5. 2011..This review discusses the potential relevance of the prion-related domains in TDP-43 and FUS in normal physiology, pathologic aggregation, and disease progression in ALS and FTLD... - Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP diseaseJeong Sun Ju
Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
J Cell Biol 187:875-88. 2009..These data implicate VCP in autophagy and suggest that impaired autophagy explains the pathology seen in IBMPFD muscle, including TDP-43 accumulation... - Novel GNE mutations in two phenotypically distinct HIBM2 patientsConrad C Weihl
Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S Euclid Avenue, Saint Louis, MO 63110, USA
Neuromuscul Disord 21:102-5. 2011..His muscle biopsy showed prominent necrosis without rimmed vacuoles. This study expands the phenotype and illustrates the clinical spectrum of HIBM2 identified in a U.S. based neuromuscular clinic... 
Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutationGlenn Lopate
Washington University School of Medicine, Department of Neurology, Saint Louis, Missouri 63110, USA
Amyotroph Lateral Scler 11:232-6. 2010..This family highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I113T SOD1 mutation...- TDP-43 A315T mutation in familial motor neuron diseaseMichael A Gitcho
Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
Ann Neurol 63:535-8. 2008..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration... - Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutationsRobert H Baloh
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 27:422-30. 2007.... - TDP-43-based animal models of neurodegeneration: new insights into ALS pathology and pathophysiologyIga Wegorzewska
Neuromuscular Division, Department of Neurology, Washington University, Saint Louis, MO 63110, USA
Neurodegener Dis 8:262-74. 2011..This review will compare the features of numerous recently developed animal models of TDP-43-related neurodegeneration, and discuss how they contribute to our understanding of the pathogenesis of human ALS and FTLD... - How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?Robert H Baloh
Neuromuscular Division, Department of Neurology, Cedars Sinai Medical Center, Los Angeles, California, USA
Curr Opin Neurol 25:701-7. 2012..This review examines the recent research developments aimed at defining the role of RNA-binding proteins (TDP-43 and FUS) in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)... - Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositisMohammad Salajegheh
Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital, and Harvard Medical School, 75 Francis Street, Boston, Massachusetts 02115, USA
Muscle Nerve 40:19-31. 2009..TDP-43 could be one of many nucleic acid binding proteins that are abnormally present in IBM sarcoplasm. They could potentially interfere with the normal function of extranuclear RNAs that maintain myofiber protein production... - The NIMA-family kinase Nek3 regulates microtubule acetylation in neuronsJufang Chang
Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA
J Cell Sci 122:2274-82. 2009..The deacetylation of microtubules in neurons by unphosphorylated Nek3 raises the possibility that it could have a role in disorders where axonal degeneration is an important component... - Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkleRobert H Baloh
Department of Neurology, Washington University School of Medicine, PO Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA
Arch Neurol 64:998-1000. 2007..To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation... - Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromesRobert H Baloh
Department of Neurology, Washington University in St Louis, Box 8111, 660 South Euclid Avenue, St Louis, Missouri, USA
Muscle Nerve 36:107-10. 2007..The muscle biopsy pattern of frequent atrophic groups containing mixed fiber types should suggest a diagnosis of a motor neuron syndrome or motor neuropathy... - GFRalpha1 expression in cells lacking RET is dispensable for organogenesis and nerve regenerationHideki Enomoto
Department of Pathology, Washington University School of Medicine, St Louis, MO 63110, USA
Neuron 44:623-36. 2004..Thus RET-independent GFRalpha1 is dispensable for organogenesis and nerve regeneration in vivo, indicating that trans-signaling and GFRalpha-dependent NCAM signaling play a minor role physiologically... - Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)Robert H Baloh
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
Neurology 62:1905-6. 2004