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Refinado por: assunto: Biochemistry & Molecular Biology remover assunto: Biological And Medical Sciences remover
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LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1
LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1
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LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1

XINGLONG WANG ; YAN, Michael H ; FUJIOKA, Hisashi ; JUN LIU ; WILSON-DELFOSSE, Amy ; CHEN, Shu G ; PERRY, George ; CASADESUS, Gemma ; XIONGWEI ZHU

Human molecular genetics, 2012-05, Vol.21 (9), p.1931-1944 [Periódico revisado por pares]

Oxford: Oxford University Press

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2
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder
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De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder

HAMILTON, P. J ; CAMPBELL, N. G ; MCHAOURAB, H. S ; MATTHIES, H. J. G ; SUTCLIFFE, J. S ; GALLI, A ; SHARMA, S ; ERREGER, K ; HERBORG HANSEN, F ; SAUNDERS, C ; BELOVICH, A. N ; SAHAI, M. A ; COOK, E. H ; GETHER, U

Molecular psychiatry, 2013-12, Vol.18 (12), p.1315-1323 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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3
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations
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Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

PUREVJAV, Enkhsaikhan ; ARIMURA, Takuro ; OMMEN, Steve R ; SHIBATA, Hiroki ; TAKAHASHI, Megumi ; ITOH-SATOH, Manatsu ; MCKENNA, William J ; MURPHY, Ross T ; LABEIT, Siegfried ; YAMANAKA, Yoichi ; MACHIDA, Noboru ; PARK, Jeong-Euy ; AUGUSTIN, Sibylle ; ALEXANDER, Peta M. A ; WEINTRAUB, Robert G ; KITAURA, Yasushi ; ACKERMAN, Michael J ; KIMURA, Akinori ; TOWBIN, Jeffrey A ; HUBY, Anne-Cecile ; TAKAGI, Ken ; NUNODA, Shinichi ; KEARNEY, Debra L ; TAYLOR, Michael D ; TERASAKI, Fumio ; BOS, Johan M

Human molecular genetics, 2012-05, Vol.21 (9), p.2039-2053 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

POTTIER, C ; HANNEQUIN, D ; THOMAS-ANTERION, C ; MICHON, A ; CROISILE, B ; ETCHARRY-BOUYX, F ; BERR, C ; DARTIGUES, J.-F ; AMOUYEL, P ; DAUCHEL, H ; BOUTOLEAU-BRETONNIERE, C ; THAUVIN, C ; COUTANT, S ; FREBOURG, T ; LAMBERT, J.-C ; CAMPION, D ; ROVELET-LECRUX, A ; WALLON, D ; ROUSSEAU, S ; LEGALLIC, S ; PAQUET, C ; BOMBOIS, S ; PARIENTE, J

Molecular psychiatry, 2012-09, Vol.17 (9), p.875-879 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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5
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

HANNAN, Fadil M ; NESBIT, M. Andrew ; LEMOS, Manuel C ; BOWL, Michael R ; BOUILLON, Roger ; BRAIN, Caroline ; BRIDGES, Nicola ; BURREN, Christine ; CONNELL, John M ; HEIKE JUNG ; MARKS, Eileen ; MCCREDIE, David ; CHEN ZHANG ; MUGHAL, Zulf ; RODDA, Christine ; TOLLEFSEN, Sherida ; BROWN, Edward M ; YANG, Jenny J ; THAKKER, Rajesh V ; CRANSTON, Treena ; CURLEY, Alan J ; HARDING, Brian ; FRATTER, Carl ; RUST, Nigel ; CHRISTIE, Paul T ; TURNER, Jeremy J. O

Human molecular genetics, 2012-06, Vol.21 (12), p.2768-2778 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
LRRK2 Parkinson disease mutations enhance its microtubule association
LRRK2 Parkinson disease mutations enhance its microtubule association
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LRRK2 Parkinson disease mutations enhance its microtubule association

Kett, Lauren R ; Boassa, Daniela ; Ho, Cherry Cheng-Ying ; Rideout, Hardy J ; Hu, Junru ; Terada, Masako ; Ellisman, Mark ; Dauer, William T

Human molecular genetics, 2012-02, Vol.21 (4), p.890-899 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Biphasic control logic of HAMP domain signalling in the Escherichia coli serine chemoreceptor
Biphasic control logic of HAMP domain signalling in the Escherichia coli serine chemoreceptor
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Biphasic control logic of HAMP domain signalling in the Escherichia coli serine chemoreceptor

Zhou, Qin ; Ames, Peter ; Parkinson, John S.

Molecular microbiology, 2011-05, Vol.80 (3), p.596-611 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Chaperone-dependent stabilization and degradation of p53 mutants
Chaperone-dependent stabilization and degradation of p53 mutants
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Chaperone-dependent stabilization and degradation of p53 mutants

MULLER, P ; HRSTKA, R ; COOMBER, D ; LANE, D. P ; VOJTESEK, B

Oncogene, 2008-05, Vol.27 (24), p.3371-3383 [Periódico revisado por pares]

Basingstoke: Nature Publishing

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9
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin–protein ligase with monoubiquitylation capacity
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin–protein ligase with monoubiquitylation capacity
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Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin–protein ligase with monoubiquitylation capacity

Hampe, Cornelia ; Ardila-Osorio, Hector ; Fournier, Margot ; Brice, Alexis ; Corti, Olga

Human molecular genetics, 2006-07, Vol.15 (13), p.2059-2075 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

KU, C. S ; POLYCHRONAKOS, C ; TAN, E. K ; NAIDOO, N ; PAWITAN, Y ; ROUKOS, D. H ; MORT, M ; COOPER, D. N

Molecular psychiatry, 2013-02, Vol.18 (2), p.141-153 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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