Search Results - "P. Rebelo, Adriana"

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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Deep structured learning for variant prioritization in Mendelian diseases by Danzi, Matt C., Dohrn, Maike F., Fazal, Sarah, Beijer, Danique, Rebelo, Adriana P., Cintra, Vivian, Züchner, Stephan

“…Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and novel…”
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The role of PGC‐1 coactivators in aging skeletal muscle and heart by Dillon, Lloye M., Rebelo, Adriana P., Moraes, Carlos T.

“…Aging is the progressive decline in cellular, tissue, and organ function. This complex process often manifests as loss of muscular strength, cardiovascular…”
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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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Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort by Cintra, Vivian Pedigone, Dohrn, Maike F., Tomaselli, Pedro José, Figueiredo, Fernanda Barbosa, Marques, Sandra Elisabete, Camargos, Sarah Teixeira, Barbosa, Luiz Sergio Mageste, P. Rebelo, Adriana, Abreu, Lisa, Danzi, Matt, Marques, Wilson, Züchner, Stephan

“…Hereditary sensory neuropathies (HSN) are a group of rare neurological disorders with heterogeneous clinical and genetic characteristics. Although at least 17…”
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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease by Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula

“…Background Charcot–Marie–Tooth disease (CMT) is a genetically and clinically heterogeneous group of inherited neuropathies. Monoallelic pathogenic variants in…”
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 by Montenegro, Gladys, Rebelo, Adriana P, Connell, James, Allison, Rachel, Babalini, Carla, D'Aloia, Michela, Montieri, Pasqua, Schüle, Rebecca, Ishiura, Hiroyuki, Price, Justin, Strickland, Alleene, Gonzalez, Michael A, Baumbach-Reardon, Lisa, Deconinck, Tine, Huang, Jia, Bernardi, Giorgio, Vance, Jeffery M, Rogers, Mark T, Tsuji, Shoji, De Jonghe, Peter, Pericak-Vance, Margaret A, Schöls, Ludger, Orlacchio, Antonio, Reid, Evan, Züchner, Stephan

“…Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic…”
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Mitochondrial DNA transcription regulation and nucleoid organization by Rebelo, Adriana P., Dillon, Lloye M., Moraes, Carlos T.

“…Mitochondrial biogenesis is a complex process depending on both nuclear and mitochondrial DNA (mtDNA) transcription regulation to tightly coordinate…”
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Motor protein mutations cause a new form of hereditary spastic paraplegia by Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P, Gonzalez, Michael A, Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca

“…OBJECTIVE:To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS:We used whole-exome sequencing…”
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Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency by Zhu, Yi, Lobato, Amanda G, Rebelo, Adriana P, Canic, Tijana, Ortiz-Vega, Natalie, Tao, Xianzun, Syed, Sheyum, Yanick, Christopher, Saporta, Mario, Shy, Michael, Perfetti, Riccardo, Shendelman, Shoshana, Züchner, Stephan, Zhai, R Grace

“…Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditary neuropathy. Loss of SORD causes high…”
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Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype by Montes-Chinea, Nataly I, Guan, Zhuo, Coutts, Marcella, Vidal, Cecilia, Courel, Steve, Rebelo, Adriana P, Abreu, Lisa, Zuchner, Stephan, Littleton, J Troy, Saporta, Mario A

“…To report a new missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction. We report a…”
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Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes by Rebelo, Adriana P, Bender, Benjamin, Haack, Tobias B, Zuchner, Stephan, Basak, A Nazli, Synofzik, Matthis

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Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia by Lobato, Amanda G., Ortiz-Vega, Natalie, Canic, Tijana, Tao, Xianzun, Bucan, Nika, Ruan, Kai, Rebelo, Adriana P., Schule, Rebecca, Zuchner, Stephan, Syed, Sheyum, Zhai, R. Grace

“…Hereditary Spastic Paraplegia (HSP) is a group of rare inherited disorders characterized by progressive weakness and spasticity of the legs. Recent newly…”
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SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights by Rebelo, Adriana P, Abad, Clemer, Dohrn, Maike F, Li, Jian J, Tieu, Ethan K, Medina, Jessica, Yanick, Christopher, Huang, Jingyu, Zotter, Brendan, Young, Juan I, Saporta, Mario, Scherer, Steven S, Walz, Katherina, Zuchner, Stephan

“…Biallelic SORD mutations cause one of the most frequent forms of recessive hereditary neuropathy, estimated to affect ∼10 000 patients in North America and…”
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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency by Rebelo, Adriana P, Saade, Dimah, Pereira, Claudia V, Farooq, Amjad, Huff, Tyler C, Abreu, Lisa, Moraes, Carlos T, Mnatsakanova, Diana, Mathews, Kathy, Yang, Hua, Schon, Eric A, Zuchner, Stephan, Shy, Michael E

“…Recessive mutations in the mitochondrial copper-binding protein SCO2 have been described in cases of fatal infant cardioencephalomyopathy with COX deficiency…”
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Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease by Shy, Michael, Rebelo, Adriana P, Feely, Shawna ME, Abreu, Lisa A, Tao, Feifei, Swenson, Andrea, Bacon, Chelsea, Zuchner, Stephan

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs by Rebelo, Adriana P, Tomaselli, Pedro J, Medina, Jessica, Wang, Ying, Dohrn, Maike F, Nyvltova, Eva, Danzi, Matt C, Garrett, Mark, Smith, Sean E, Pestronk, Alan, Li, Chengcheng, Ruiz, Ariel, Jacobs, Elizabeth, Feely, Shawna M E, França, Marcondes C, Gomes, Marcus V, Santos, Diogo F, Kumar, Surinder, Lombard, David B, Saporta, Mario, Hekimi, Siegfried, Barrientos, Antoni, Weihl, Conrad, Shy, Michael E, Marques, Wilson, Zuchner, Stephan

“…Abstract COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple…”
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In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions by Rebelo, Adriana P., Williams, Sion L., Moraes, Carlos T.

“…To characterize the organization of mtDNA–protein complexes (known as nucleoids) in vivo, we have probed the mtDNA surface exposure using site-specific DNA…”
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Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation by Stregapede, Fabrizia, Travaglini, Lorena, Rebelo, Adriana P., Cintra, Vivian Pedigone, Bellacchio, Emanuele, Bosco, Luca, Alfieri, Paolo, Pro, Stefano, Zuchner, Stephan, Bertini, Enrico, Nicita, Francesco

“…Dominant mutations in ATP1A1, encoding the alpha‐1 isoform of the Na+/K+‐ATPase, have been recently reported to cause an axonal to intermediate type of…”
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome by Dohrn, Maike F., Rebelo, Adriana P., Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J., Züchner, Stephan

“…ATP1A1 encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other…”
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