Thomas Jefferson University

Grace Hobson

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records and Publicatio - Thomas Jefferson University
Address833 Chestnut Street
Philadelphia PA 19023
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    R01NS058978     (HOBSON, GRACE M.)Jan 15, 2009 - Dec 31, 2015
    NIH
    Molecular genetics of Pelizaeus-Merzbacher disease
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Moore KM, Wolf NI, Hobson G, Bowyer K, McSherry J, Hartin G, Wilde C, Shapiro S, Frank J, Manley D, Junge C. Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact. J Child Neurol. 2023 02; 38(1-2):78-84. PMID: 36744386.
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    2. Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kepczynski L, Polatynska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282. PMID: 36368327.
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    3. Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, S?bire G, Louren?o CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Str?mme P, de Grauw T, Gieruszczak-Bialek D, Kr?geloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melan?on S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, ?zkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, S?nderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, V?zquez-L?pez M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno G?, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 01 23; 106(2):e660-e674. PMID: 33005949.
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    4. Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. Am J Med Genet A. 2020 08; 182(8):1906-1912. PMID: 32573057.
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    5. Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A. Genome sequencing in persistently unsolved white matter disorders. Ann Clin Transl Neurol. 2020 01; 7(1):144-152. PMID: 31912665.
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    6. Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80. PMID: 31818324.
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    7. Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168. PMID: 31448840.
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    8. Tantzer S, Sperle K, Kenaley K, Taube J, Hobson GM. Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS. Mol Ther Nucleic Acids. 2018 Sep 07; 12:420-432. PMID: 30195779.
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    9. Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM. Auditory function in Pelizaeus-Merzbacher disease. J Neurol. 2018 Jul; 265(7):1580-1589. PMID: 29725841.
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    10. Nevin ZS, Factor DC, Karl RT, Douvaras P, Laukka J, Windrem MS, Goldman SA, Fossati V, Hobson GM, Tesar PJ. Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. Am J Hum Genet. 2017 Apr 06; 100(4):617-634. PMID: 28366443.
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    11. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A. Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]. Mol Genet Metab. 2016 11; 119(3):293. PMID: 27780564.
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    12. Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, ?stergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Ann Clin Transl Neurol. 2015 Jun; 2(6):648-61. PMID: 26125040.
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    13. Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 Mar; 11(3):e1005050. PMID: 25749076.
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    14. Rodriguez E, Sakowski L, Hobson GM, Armani MH, Kreiger PA, Zhu Y, Waldman SA, Shaffer TH. Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation. Pulm Pharmacol Ther. 2015 Feb; 30:22-31. PMID: 25445931.
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    15. Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. Hum Mol Genet. 2014 Oct 15; 23(20):5464-78. PMID: 24890387.
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    16. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2014 03; 111(3):393-398. PMID: 24374284.
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    17. Laukka JJ, Stanley JA, Garbern JY, Trepanier A, Hobson G, Lafleur T, Gow A, Kamholz J. Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. J Neurol Sci. 2013 Dec 15; 335(1-2):75-81. PMID: 24139698.
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    18. Clark K, Sakowski L, Sperle K, Banser L, Landel CP, Bessert DA, Skoff RP, Hobson GM. Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication. J Neurosci. 2013 Jul 17; 33(29):11788-99. PMID: 23864668.
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    19. Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug; 34(8):1160-71. PMID: 23649844.
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    20. Hobson GM, Garbern JY. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Semin Neurol. 2012 Feb; 32(1):62-7. PMID: 22422208.
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    21. Hobson GM, Gibson CW, Aragon M, Yuan ZA, Davis-Williams A, Banser L, Kirkham J, Brook AH. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A. 2009 Aug; 149A(8):1698-705. PMID: 19610109.
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    22. Sima AA, Pierson CR, Woltjer RL, Hobson GM, Golden JA, Kupsky WJ, Schauer GM, Bird TD, Skoff RP, Garbern JY. Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. Acta Neuropathol. 2009 Oct; 118(4):531-9. PMID: 19562355.
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    23. Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. J Child Neurol. 2009 May; 24(5):618-24. PMID: 19151366.
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    24. Wang E, Dimova N, Sperle K, Huang Z, Lock L, McCulloch MC, Edgar JM, Hobson GM, Cambi F. Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability. Exp Neurol. 2008 Dec; 214(2):322-30. PMID: 18835559.
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    25. Gorman MP, Golomb MR, Walsh LE, Hobson GM, Garbern JY, Kinkel RP, Darras BT, Urion DK, Eksioglu YZ. Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology. 2007 Apr 17; 68(16):1305-7. PMID: 17438221.
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    26. Wang E, Huang Z, Hobson GM, Dimova N, Sperle K, McCullough A, Cambi F. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer. J Cell Biochem. 2006 Apr 01; 97(5):999-1016. PMID: 16288477.
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    27. Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol. 2006 Feb; 59(2):398-403. PMID: 16374829.
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    28. Hobson GM, Huang Z, Sperle K, Sistermans E, Rogan PK, Garbern JY, Kolodny E, Naidu S, Cambi F. Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes. Hum Mutat. 2006 Jan; 27(1):69-77. PMID: 16287154.
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    29. Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet. 2005 Dec; 77(6):966-87. PMID: 16380909.
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    30. Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain. 2005 Apr; 128(Pt 4):743-51. PMID: 15689360.
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    31. Lee ES, Moon HK, Park YH, Garbern J, Hobson GM. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. J Neurol Sci. 2004 Sep 15; 224(1-2):83-7. PMID: 15450775.
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    32. Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol. 2003 Mar; 53(3):354-65. PMID: 12601703.
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    33. Garbern J, Hobson G. Prenatal diagnosis of Pelizaeus-Merzbacher disease. Prenat Diagn. 2002 Nov; 22(11):1033-5. PMID: 12424770.
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    34. Hobson GM, Huang Z, Sperle K, Stabley DL, Marks HG, Cambi F. A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 2002 Oct; 52(4):477-88. PMID: 12325077.
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    35. Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. Am J Med Genet. 2002 Aug 01; 111(2):152-6. PMID: 12210342.
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    36. Garbern J, Shy M, Krajewski K, Kamholz J, Hobson G, Cambi F. Evidence for neuroaxonal injury in patients with proteolipid gene mutations. Neurology. 2001 Nov 27; 57(10):1938-9. PMID: 11723304.
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    37. Hobson G, Stabley D, Funanage V, Marks H. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease. Hum Mutat. 2001 Feb; 17(2):152. PMID: 11180600.
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    38. Hobson GM, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology. 2000 Oct 24; 55(8):1089-96. PMID: 11071483.
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    39. Stanton RP, Hobson GM, Montgomery BE, Moses PA, Smith-Kirwin SM, Funanage VL. Glucocorticoids decrease interleukin-6 levels and induce mineralization of cultured osteogenic cells from children with fibrous dysplasia. J Bone Miner Res. 1999 Jul; 14(7):1104-14. PMID: 10404010.
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    40. Hobson GM, Funanage VL, Elsemore J, Yagami M, Rajpurohit R, Perriard JC, Hickok NJ, Shapiro IM, Tuan RS. Developmental expression of creatine kinase isoenzymes in chicken growth cartilage. J Bone Miner Res. 1999 May; 14(5):747-56. PMID: 10320523.
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    41. Bachinski LL, Abchee A, Durand JB, Roberts R, Krahe R, Hobson GM. Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies. Mol Cell Probes. 1997 Feb; 11(1):55-8. PMID: 9076715.
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    42. Koty PP, Pegoraro E, Hobson G, Marks HG, Turel A, Flagler D, Cadaldini M, Angelini C, Hoffman EP. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology. 1996 Oct; 47(4):963-8. PMID: 8857727.
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    43. Hobson GM, Harlow PP, Benfield PA. Construction of linker-scanning mutations by oligonucleotide ligation. Methods Mol Biol. 1996; 57:279-85. PMID: 8850014.
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    44. Harlow PP, Hobson GM, Benfield PA. Construction of linker-scanning mutations using PCR. Methods Mol Biol. 1996; 57:287-95. PMID: 8850015.
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    45. Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL. Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23. Genomics. 1995 Oct 10; 29(3):704-11. PMID: 8575763.
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    46. Harlow PP, Hobson GM, Benfield PA. Construction of linker-scanning mutations using the polymerase chain reaction. Methods Mol Biol. 1994; 31:87-96. PMID: 7921041.
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    47. Hobson GM, Harlow PP, Benfield PA. Construction of linker-scanning mutations by oligonucleotide ligation. Methods Mol Biol. 1994; 31:79-85. PMID: 7921040.
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    48. Mitchell MT, Hobson GM, Benfield PA. TATA box-mediated polymerase III transcription in vitro. J Biol Chem. 1992 Jan 25; 267(3):1995-2005. PMID: 1730731.
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    49. Hobson GM, Molloy GR, Benfield PA. Identification of cis-acting regulatory elements in the promoter region of the rat brain creatine kinase gene. Mol Cell Biol. 1990 Dec; 10(12):6533-43. PMID: 2247071.
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    50. Horlick RA, Hobson GM, Patterson JH, Mitchell MT, Benfield PA. Brain and muscle creatine kinase genes contain common TA-rich recognition protein-binding regulatory elements. Mol Cell Biol. 1990 Sep; 10(9):4826-36. PMID: 2388627.
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    51. Hobson GM, Mitchell MT, Molloy GR, Pearson ML, Benfield PA. Identification of a novel TA-rich DNA binding protein that recognizes a TATA sequence within the brain creatine kinase promoter. Nucleic Acids Res. 1988 Sep 26; 16(18):8925-44. PMID: 3174436.
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    52. Benfield PA, Graf D, Korolkoff PN, Hobson G, Pearson ML. Isolation of four rat creatine kinase genes and identification of multiple potential promoter sequences within the rat brain creatine kinase promoter region. Gene. 1988 Mar 31; 63(2):227-43. PMID: 2838389.
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