Search Results - "Bis, Dana M"

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport by Maciel, Renata, Bis, Dana M., Rebelo, Adriana P., Saghira, Cima, Züchner, Stephan, Saporta, Mario A.

“…Local axonal translation of specific mRNA species plays an important role in axon maintenance, plasticity during development and recovery from injury…”
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy by Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan

“…Abnormal protein aggregation is observed in an expanding number of neurodegenerative diseases. Here, we describe a mechanism for intracellular toxic protein…”
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POLG mutations presenting as Charcot‐Marie‐Tooth disease by Phillips, Jade, Courel, Steve, Rebelo, Adriana P., Bis‐Brewer, Dana M., Bardakjian, Tanya, Dankwa, Lois, Hamedani, Ali G., Züchner, Stephan, Scherer, Steven S.

“…We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset…”
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COPI-regulated mitochondria-ER contact site formation maintains axonal integrity by Maddison, Daniel C., Malik, Bilal, Amadio, Leonardo, Bis-Brewer, Dana M., Züchner, Stephan, Peters, Owen M., Smith, Gaynor A.

“…Coat protein complex I (COPI) is best known for its role in Golgi-endoplasmic reticulum (ER) trafficking, responsible for the retrograde transport of…”
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Perspectives on the Genomics of HSP Beyond Mendelian Inheritance by Bis-Brewer, Dana M, Züchner, Stephan

“…Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing,…”
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Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias by Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, Jonghe, Peter, Schöls, Ludger, Züchner, Stephan

“…Background The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients,…”
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 by Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

“…Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals…”
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Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis by Alqahtani, Norah, Porwal, Suheel K, James, Elle D, Bis, Dana M, Karty, Jonathan A, Lane, Amy L, Viswanathan, Rajesh

“…Marine actinomycete-derived natural products continue to inspire chemical and biological investigations. Nocardioazines A and B (3 and 4), from Nocardiopsis…”
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Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser by Saghira, Cima, Bis, Dana M., Stanek, David, Strickland, Alleene, Herrmann, David N., Reilly, Mary M., Scherer, Steven S., Shy, Michael E., Züchner, Stephan

“…Charcot‐Marie‐Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated one in 2,500 people. Over 120 CMT and related genes…”
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Genetic modifiers and non-Mendelian aspects of CMT by Bis-Brewer, Dana M., Fazal, Sarah, Züchner, Stephan

“…Charcot-Marie-Tooth (CMT) neuropathies are amongst the most common inherited diseases in neurology. While great strides have been made to identify the genesis…”
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Characterization of the Nocardiopsin Biosynthetic Gene Cluster Reveals Similarities to and Differences from the Rapamycin and FK-506 Pathways by Bis, Dana M., Ban, Yang H., James, Elle D., Alqahtani, Norah, Viswanathan, Rajesh, Lane, Amy L.

“…Macrolide‐pipecolate natural products, such as rapamycin (1) and FK‐506 (2), are renowned modulators of FK506‐binding proteins (FKBPs). The nocardiopsins, from…”
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

“…The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes…”
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Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation by Smith, Gaynor A., Lin, Tzu-Huai, Sheehan, Amy E., Van der Goes van Naters, Wynand, Neukomm, Lukas J., Graves, Hillary K., Bis-Brewer, Dana M., Züchner, Stephan, Freeman, Marc R.

“…Mitochondria are essential in long axons to provide metabolic support and sustain neuron integrity. A healthy mitochondrial pool is maintained by biogenesis,…”
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TSG101 negatively regulates mitochondrial biogenesis in axons by Lin, Tzu-Huai, Bis-Brewer, Dana M., Sheehan, Amy E., Townsend, Louise N., Maddison, Daniel C., Züchner, Stephan, Smith, Gaynor A., Freeman, Marc R.

“…There is a tight association between mitochondrial dysfunction and neurodegenerative diseases and axons that are particularly vulnerable to degeneration, but…”
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A network biology approach to unraveling inherited axonopathies by Bis-Brewer, Dana M., Danzi, Matt C., Wuchty, Stefan, Züchner, Stephan

“…Inherited axonopathies represent a spectrum of disorders unified by the common pathological mechanism of length-dependent axonal degeneration. Progressive…”
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Prot2HG: a database of protein domains mapped to the human genome by Stanek, David, Bis-Brewer, Dana M, Saghira, Cima, Danzi, Matt C, Seeman, Pavel, Lassuthova, Petra, Zuchner, Stephan

“…Abstract Genetic variation occurring within conserved functional protein domains warrants special attention when examining DNA variation in the context of…”
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Large scale in silico characterization of repeat expansion variation in human genomes by Fazal, Sarah, Danzi, Matt C., Cintra, Vivian P., Bis-Brewer, Dana M., Dolzhenko, Egor, Eberle, Michael A., Zuchner, Stephan

“…Significant progress has been made in elucidating single nucleotide polymorphism diversity in the human population. However, the majority of the variation…”
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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes by Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial by Schöls, Ludger, Rattay, Tim W, Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J, Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M, Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca

“…Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by…”
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