Results 81 to 90 of about 596,185 (264)

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [PDF]

, 2014
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size ...
Chiaromonte, Francesca, T. S. Korneliussen, D. Blankenberg, Blankenberg, Daniel, Korneliussen, Thorfinn Sand, I. M. Paul, Paul, IM, Holland, Mitchell M, Su, Marcia Shu-Wei, B. Rebolledo-Jaramillo, Su, MS-W, B. Dickins, A. Nekrutenko, McElhoe, Jennifer A., R. Nielsen, N. Stoler, Nielsen, Rasmus, Nekrutenko, A, Makova, Kateryna D., Stoler, Nicholas, McElhoe, Jennifer A, Korneliussen, Thorfinn S., Chiaromonte, F, Holland, MM, M. S.-W. Su, Nekrutenko, Anton, Nielsen, R, Makova, KD, J. A. McElhoe, Rebolledo-Jaramillo, Boris, Rebolledo-Jaramillo, B, Korneliussen, Thorfinn S, Makova, Kateryna D, M. M. Holland, Holland, Mitchell M., Stoler, N, Blankenberg, D, F. Chiaromonte, Paul, Ian M., Paul, Ian M, K. D. Makova, Korneliussen, TS, McElhoe, JA, Dickins, Benjamin, Dickins, B   +44 more
core   +1 more source

Mitochondrial genetics and disease

Trends in Biochemical Sciences, 2000
Mitochondrial respiratory chain diseases are a highly diverse group of disorders whose main unifying characteristic is the impairment of mitochondrial function. As befits an organelle containing gene products encoded by both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA), these diseases can be caused by inherited errors in either genome, but a ...
openaire   +2 more sources

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Proteomic analysis of cellular models of neurodegeneration and mitochondrial dysfunction

, 2009
Mitochondrial dysfunction is thought to contribute to neurodegenerative processes. As an example, dysfunction of complex I of the electron transport chain has been observed in Parkinson’s disease patients and 1-methyl-4-phenyl-1,2,3,6 tetrahydropyridine (
Burté, F, Burte, Florence
core  

Restriction of trophic factors and nutrients induces PARKIN expression [PDF]

, 2011
Parkinson's disease (PD) is the most frequent neurodegenerative movement disorder and manifests at old age. While many details of its pathogenesis remain to be elucidated, in particular the protein and mitochondrial quality control during stress ...
Klinkenberg, Michael, Auburger, Georg, S. Gispert, Braun, Isabelle, M. Klinkenberg, Dominguez Bautista, Jorge Antolio, M. Jendrach, Gispert, Suzana, G. Auburger, J. A. Dominguez-Bautista, I. Braun, Jendrach, Marina   +11 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L.   +219 more
core   +1 more source

Mitochondrial disease and epilepsy

Brain and Development, 2013
Mitochondrial diseases are a group of diseases caused by dysfunctional mitochondria, organelles that generate energy for the cell. Mitochondrial diseases are often caused by mutations, acquired, or inherited in the mitochondrial DNA or nuclear genes that code for respiratory chain complexes in the mitochondrion.
Hoon-Chul, Kang, Young-Mock, Lee, Heung Dong, Kim   +2 more
openaire   +3 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source