Mitochondrial genetic diseases

Por Falk, Marni J., Sondheimer, Neal
Publicado em 2010

Transcriptional requirements of the distal heavy-strand promoter of mtDNA

Por Zollo, Ornella, Tiranti, Valeria, Sondheimer, Neal
Publicado em 2012

Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [PSI(+)]

Por Liu, Jia-Jia, Sondheimer, Neal, Lindquist, Susan L.
Publicado em 2002

The role of Sis1 in the maintenance of the [RNQ(+)] prion

Por Sondheimer, Neal, Lopez, Nelson, Craig, Elizabeth A., Lindquist, Susan
Publicado em 2001

Role of Calcineurin, hnRNPA2 and Akt in Mitochondrial Respiratory Stress-Mediated Transcription Activation of Nuclear Gene Targets

Por Guha, Manti, Tang, Weigang, Sondheimer, Neal, Avadhani, Narayan G.
Publicado em 2010

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

Por Glatz, Catherine, D’Aco, Kristin, Smith, Sabrina, Sondheimer, Neal
Publicado em 2011

The Leucine-rich Pentatricopeptide-Repeat Containing Protein Regulates Mitochondrial Transcription

Por Sondheimer, Neal, Fang, Ji-Kang, Polyak, Erzsebet, Falk, Marni, Avadhani, Narayan G.
Publicado em 2010

A Distinctive Physiological Role for IκBβ in the Propagation of Mitochondrial Respiratory Stress Signaling

Por Biswas, Gopa, Tang, Weigang, Sondheimer, Neal, Guha, Manti, Bansal, Seema, Avadhani, Narayan G.
Publicado em 2008

High-dose continuous renal replacement therapy for neonatal hyperammonemia

Por Spinale, Joann M., Laskin, Benjamin L., Sondheimer, Neal, Swartz, Sarah J., Goldstein, Stuart L.
Publicado em 2013

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood

Por D’Aco, Kristin E, Manno, Megan, Clarke, Colleen, Ganesh, Jaya, Meyers, Kevin EC, Sondheimer, Neal
Publicado em 2012

Neutral mitochondrial heteroplasmy and the influence of aging

Por Sondheimer, Neal, Glatz, Catherine E., Tirone, Jack E., Deardorff, Matthew A., Krieger, Abba M., Hakonarson, Hakon
Publicado em 2011

Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans

Por Satyal, Sanjeev H., Schmidt, Enrico, Kitagawa, Kazunori, Sondheimer, Neal, Lindquist, Susan, Kramer, James M., Morimoto, Richard I.
Publicado em 2000

IMPROVING SURVEILLANCE FOR HYPERAMMONEMIA IN THE NEWBORN

Por Vergano, Samantha A., Crossette, Jonathan M., Cusick, Frederick C., Desai, Bimal R., Deardorff, Matthew A., Sondheimer, Neal
Publicado em 2013

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

Por Clarke, Colleen, Xiao, Rui, Place, Emily, Zhang, Zhe, Sondheimer, Neal, Bennett, Michael, Yudkoff, Marc, Falk, Marni J.
Publicado em 2013

Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION

Por Seifert, Erin L., Gál, Aniko, Acoba, Michelle G., Li, Qipei, Anderson-Pullinger, Lauren, Golenár, Tunde, Moffat, Cynthia, Sondheimer, Neal, Claypool, Steven M., Hajnóczky, György
Publicado no J Biol Chem (2016)

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

Por Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal
Publicado no Mol Genet Genomic Med (2015)

Complex Management of a Patient with a Contiguous Xp11.4 Gene Deletion Involving Ornithine Transcarbamylase: A Role for Detailed Molecular Analysis in Complex Presentations of Clas...

Por Deardorff, Matthew A., Gaddipati, Himabindu, Kaplan, Paige, Sanchez-Lara, Pedro A., Sondheimer, Neal, Spinner, Nancy B., Hakonarson, Hakon, Ficicioglu, Can, Ganesh, Jaya, Markello, Thomas, Loechelt, Brett, Zand, Dina J., Yudkoff, Marc, Lichter-Konecki, Uta
Publicado em 2008

Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases

Por Schadt, Eric E., Banerjee, Onureena, Fang, Gang, Feng, Zhixing, Wong, Wing H., Zhang, Xuegong, Kislyuk, Andrey, Clark, Tyson A., Luong, Khai, Keren-Paz, Alona, Chess, Andrew, Kumar, Vipin, Chen-Plotkin, Alice, Sondheimer, Neal, Korlach, Jonas, Kasarskis, Andrew
Publicado em 2013

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

Por Ahrens-Nicklas, Rebecca C., Umanah, George K.E., Sondheimer, Neal, Deardorff, Matthew A., Wilkens, Alisha B., Conlin, Laura K., Santani, Avni B., Nesbitt, Addie, Juulsola, Jane, Ma, Erica, Dawson, Ted M., Dawson, Valina L., Marsh, Eric D.
Publicado no Neurol Genet (2017)

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Por Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien
Publicado no Am J Hum Genet (2016)