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SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage
Author / Creator:Jangi, Mohini ; Fleet, Christina ; Cullen, Patrick ; Gupta, Shipra V. ; Mekhoubad, Shila ; Chiao, Eric ; Allaire, Norm ; Bennett, C. Frank ; Rigo, Frank ; Krainer, Adrian R. ; Hurt, Jessica A. ; Carulli, John P. ; Staropoli, John F.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (12), p.E2347-E2356
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Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency
Author / Creator:Taylor, Jennifer L ; Lee, Francis K ; Yazdanpanah, Golriz Khadem ; Staropoli, John F ; Liu, Mei ; Carulli, John P ; Sun, Chao ; Dobrowolski, Steven F ; Hannon, W Harry ; Vogt, Robert F
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2015-02, Vol.61 (2), p.412-419
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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
Author / Creator:Velinov, Milen ; Dolzhanskaya, Natalia ; Gonzalez, Michael ; Powell, Eric ; Konidari, Ioanna ; Hulme, William ; Staropoli, John F ; Xin, Winnie ; Wen, Guang Y ; Barone, Rosemary ; Coppel, Scott H ; Sims, Katherine ; Brown, W Ted ; Züchner, Stephan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-01, Vol.7 (1), p.e29729-e29729
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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells
Author / Creator:Cao, Yi ; Staropoli, John F ; Biswas, Sunita ; Espinola, Janice A ; MacDonald, Marcy E ; Lee, Jong-Min ; Cotman, Susan L
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-02, Vol.6 (2), p.e17118-e17118
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Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system
Author / Creator:Staropoli, John F ; Haliw, Larissa ; Biswas, Sunita ; Garrett, Lillian ; Hölter, Sabine M ; Becker, Lore ; Skosyrski, Sergej ; Da Silva-Buttkus, Patricia ; Calzada-Wack, Julia ; Neff, Frauke ; Rathkolb, Birgit ; Rozman, Jan ; Schrewe, Anja ; Adler, Thure ; Puk, Oliver ; Sun, Minxuan ; Favor, Jack ; Racz, Ildikó ; Bekeredjian, Raffi ; Busch, Dirk H ; Graw, Jochen ; Klingenspor, Martin ; Klopstock, Thomas ; Wolf, Eckhard ; Wurst, Wolfgang ; Zimmer, Andreas ; Lopez, Edith ; Harati, Hayat ; Hill, Eric ; Krause, Daniela S ; Guide, Jolene ; Dragileva, Ella ; Gale, Evan ; Wheeler, Vanessa C ; Boustany, Rose-Mary ; Brown, Diane E ; Breton, Sylvie ; Ruether, Klaus ; Gailus-Durner, Valérie ; Fuchs, Helmut ; de Angelis, Martin Hrabě ; Cotman, Susan L
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-06, Vol.7 (6), p.e38310-e38310
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Increased systemic HSP70B levels in spinal muscular atrophy infants
Author / Creator:Eichelberger, Eric J. ; Alves, Christiano R. R. ; Zhang, Ren ; Petrillo, Marco ; Cullen, Patrick ; Farwell, Wildon ; Hurt, Jessica A. ; Staropoli, John F. ; Swoboda, Kathryn J.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1495-1501
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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
Author / Creator:Staropoli, John F ; Xin, Winnie ; Barone, Rosemary ; Cotman, Susan L ; Sims, Katherine B
Publisher:England: BioMed Central
Journal title:BMC genetics, 2012-06, Vol.13 (1), p.50-50
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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Author / Creator:Velinov, Milen ; Dolzhanskaya, Natalia ; Gonzalez, Michael ; Powell, Eric ; Konidari, Ioanna ; Hulme, William ; Staropoli, John F. ; Xin, Winnie ; Wen, Guang Y. ; Barone, Rosemary ; Coppel, Scott H. ; Sims, Katherine ; Brown, W. Ted ; ZÃ¼chner, Stephan
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2012-09, Vol.7 (9)
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Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
Author / Creator:Henderson, Michael X. ; Wirak, Gregory S. ; Zhang, Yong-quan ; Dai, Feng ; Ginsberg, Stephen D. ; Dolzhanskaya, Natalia ; Staropoli, John F. ; Nijssen, Peter C. G. ; Lam, TuKiet T. ; Roth, Amy F. ; Davis, Nicholas G. ; Dawson, Glyn ; Velinov, Milen ; Chandra, Sreeganga S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2016-04, Vol.131 (4), p.621-637
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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum
Author / Creator:Cotman, Susan L. ; Karaa, Amel ; Staropoli, John F. ; Sims, Katherine B.
Publisher:New York: Springer US
Journal title:Current neurology and neuroscience reports, 2013-08, Vol.13 (8), p.366-366, Article 366
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Redefining the MED13L syndrome
Author / Creator:Adegbola, Abidemi ; Musante, Luciana ; Callewaert, Bert ; Maciel, Patricia ; Hu, Hao ; Isidor, Bertrand ; Picker-Minh, Sylvie ; Le Caignec, Cedric ; Delle Chiaie, Barbara ; Vanakker, Olivier ; Menten, Björn ; Dheedene, Annelies ; Bockaert, Nele ; Roelens, Filip ; Decaestecker, Karin ; Silva, João ; Soares, Gabriela ; Lopes, Fátima ; Najmabadi, Hossein ; Kahrizi, Kimia ; Cox, Gerald F ; Angus, Steven P ; Staropoli, John F ; Fischer, Ute ; Suckow, Vanessa ; Bartsch, Oliver ; Chess, Andrew ; Ropers, Hans-Hilger ; Wienker, Thomas F ; Hübner, Christoph ; Kaindl, Angela M ; Kalscheuer, Vera M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317
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ArticlesPeer ReviewedFull Text
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
Author / Creator:Cotman, Susan L ; Staropoli, John F
Publisher:United States: Future Medicine Ltd
Journal title:Clinical lipidology, 2012-02, Vol.7 (1), p.79-91
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Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4
Author / Creator:Staropoli, John F ; Xin, Winnie ; Sims, Katherine B
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-11, Vol.47 (11), p.786-790
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The ubiquitin-proteasome pathway is necessary for maintenance of the postmitotic status of neurons
Author / Creator:Staropoli, John F ; Abeliovich, Asa
Publisher:United States: Springer Nature B.V
Journal title:Journal of molecular neuroscience, 2005-01, Vol.27 (2), p.175-184
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ArticlesPeer ReviewedFull Text
Computerized Analysis of Chemotaxis at Different Stages of Bacterial Growth
Author / Creator:Staropoli, John F. ; Alon, Uri
Publisher:United States: Elsevier Inc
Journal title:Biophysical journal, 2000, Vol.78 (1), p.513-519
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ArticlesPeer ReviewedFull Text
Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation
Author / Creator:Henderson, Michael X. ; Wirak, Gregory S. ; Zhang, Yong-quan ; Dai, Feng ; Ginsberg, Stephen D. ; Dolzhanskaya, Natalia ; Staropoli, John F. ; Nijssen, Peter CG ; Lam, TuKiet T ; Roth, Amy F. ; Davis, Nicholas G. ; Dawson, Glyn ; Velinov, Milen ; Chandra, Sreeganga S.
Journal title:Acta neuropathologica, 2015-12, Vol.131 (4), p.621-637
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Neuronal ceroid lipofuscinosis with DNAJC5/CSP[alpha] mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
Author / Creator:Henderson, Michael X ; Wirak, Gregory S ; Zhang, Yong-quan ; Dai, Feng ; Ginsberg, Stephen D ; Dolzhanskaya, Natalia ; Staropoli, John F ; Nijssen, Peter C. G ; Lam, TuKiet T ; Roth, Amy F ; Davis, Nicholas G ; Dawson, Glyn ; Velinov, Milen ; Chandra, Sreeganga S
Publisher:Heidelberg: Springer
Journal title:Acta neuropathologica, 2016-04, Vol.131 (4), p.621
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ArticlesPeer ReviewedFull Text
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation
Author / Creator:Staropoli, John F ; Xin, Winnie ; Barone, Rosemary ; Cotman, Susan L ; Sims, Katherine B
Journal title:BMC medical genetics, 2012-06, Vol.13 (1), Article 50
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Correction: Mutations in the Gene Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Author / Creator:Milen Velinov ; Natalia Dolzhanskaya ; Michael Gonzalez ; Eric Powell ; Ioanna Konidari ; William Hulme ; John F. Staropoli ; Winnie Xin ; Guang Y. Wen ; Rosemary Barone ; Scott H. Coppel ; Katherine Sims ; W. Ted Brown ; Stephan Züchner
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2012-01, Vol.7 (9)
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ReportsFull Text
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
Author / Creator:Cotman, Susan L ; Staropoli, John F
Publisher:Future Medicine Ltd
Journal title:Clinical Lipidology, 2012, Vol.7 (1), p.79
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SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

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Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency

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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

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Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

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Increased systemic HSP70B levels in spinal muscular atrophy infants

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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

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Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

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Redefining the MED13L syndrome

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The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

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Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4

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The ubiquitin-proteasome pathway is necessary for maintenance of the postmitotic status of neurons

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Computerized Analysis of Chemotaxis at Different Stages of Bacterial Growth

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Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation

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Neuronal ceroid lipofuscinosis with DNAJC5/CSP[alpha] mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation

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Correction: Mutations in the Gene Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

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The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

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