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Results 1 - 20 of 666  for Central Connecticut State University

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1
The link between the GBA gene and parkinsonism
The link between the GBA gene and parkinsonism
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The link between the GBA gene and parkinsonism

Sidransky, Ellen, Dr ; Lopez, Grisel, MD

Lancet neurology, 2012, Vol.11 (11), p.986-998 [Peer Reviewed Journal]

England: Elsevier Ltd

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2
Mechanism of phospho-ubiquitin-induced PARKIN activation
Mechanism of phospho-ubiquitin-induced PARKIN activation
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Mechanism of phospho-ubiquitin-induced PARKIN activation

Wauer, Tobias ; Simicek, Michal ; Schubert, Alexander ; Komander, David

Nature (London), 2015-08-20, Vol.524 (7565), p.370-374 [Peer Reviewed Journal]

England: Nature Publishing Group

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3
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Lesage, Suzanne ; Drouet, Valérie ; Majounie, Elisa ; Deramecourt, Vincent ; Jacoupy, Maxime ; Nicolas, Aude ; Cormier-Dequaire, Florence ; Hassoun, Sidi Mohamed ; Pujol, Claire ; Ciura, Sorana ; Erpapazoglou, Zoi ; Usenko, Tatiana ; Maurage, Claude-Alain ; Sahbatou, Mourad ; Liebau, Stefan ; Ding, Jinhui ; Bilgic, Basar ; Emre, Murat ; Erginel-Unaltuna, Nihan ; Guven, Gamze ; Tison, François ; Tranchant, Christine ; Vidailhet, Marie ; Corvol, Jean-Christophe ; Krack, Paul ; Leutenegger, Anne-Louise ; Nalls, Michael A ; Hernandez, Dena G ; Heutink, Peter ; Gibbs, J. Raphael ; Hardy, John ; Wood, Nicholas W ; Gasser, Thomas ; Durr, Alexandra ; Deleuze, Jean-François ; Tazir, Meriem ; Destée, Alain ; Lohmann, Ebba ; Kabashi, Edor ; Singleton, Andrew ; Corti, Olga ; Brice, Alexis ; Lesage, Suzanne ; Tison, François ; Vidailhet, Marie ; Corvol, Jean-Christophe ; Agid, Yves ; Anheim, Mathieu ; Bonnet, Anne-Marie ; Borg, Michel ; Broussolle, Emmanuel ; Damier, Philippe ; Destée, Alain ; Dürr, Alexandra ; Durif, Franck ; Krack, Paul ; Klebe, Stephan ; Lohmann, Ebba ; Martinez, Maria ; Pollak, Pierre ; Rascol, Olivier ; Tranchant, Christine ; Vérin, Marc ; Viallet, François ; Brice, Alexis ; Majounie, Elisa ; Corvol, Jean Christophe ; Nalls, Michael A ; Hernandez, Dena G ; Gibbs, J. Raphael ; Arepalli, Sampath ; Barker, Roger A ; Ben-Shlomo, Yoav ; Berg, Daniela ; Bettella, Francesco ; Bhatia, Kailash ; de Bie, Rob M.A ; Biffi, Alessandro ; Bloem, Bastiaan R ; Bochdanovits, Zoltan ; Bonin, Michael ; Bras, Jose M ; Brockmann, Kathrin ; Brooks, Janet ; Burn, David J ; Charlesworth, Gavin ; Chen, Honglei ; Chinnery, Patrick F ; Chong, Sean ; Clarke, Carl E ; Cookson, Mark R ; Counsell, Carl ; Dartigues, Jean-François ; Deloukas, Panos ; Deuschl, Günther ; Dexter, David T ; van Dijk, Karin D ; Dillman, Allissa ; Dong, Jing ; Durif, Frank ; ...

American journal of human genetics, 2016-03-03, Vol.98 (3), p.500-513 [Peer Reviewed Journal]

United States: Elsevier Inc

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4
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
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CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

Funayama, Manabu, PhD ; Ohe, Kenji, MD ; Amo, Taku, PhD ; Furuya, Norihiko, PhD ; Yamaguchi, Junji, MSc ; Saiki, Shinji, MD ; Li, Yuanzhe, MD ; Ogaki, Kotaro, MD ; Ando, Maya, MD ; Yoshino, Hiroyo, PhD ; Tomiyama, Hiroyuki, MD ; Nishioka, Kenya, MD ; Hasegawa, Kazuko, MD ; Saiki, Hidemoto, MD ; Satake, Wataru, MD ; Mogushi, Kaoru, PhD ; Sasaki, Ryogen, MD ; Kokubo, Yasumasa, Prof ; Kuzuhara, Shigeki, Prof ; Toda, Tatsushi, Prof ; Mizuno, Yoshikuni, Prof ; Uchiyama, Yasuo, Prof ; Ohno, Kinji, Prof ; Hattori, Nobutaka, Prof

Lancet neurology, 2015, Vol.14 (3), p.274-282 [Peer Reviewed Journal]

England: Elsevier Ltd

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5
Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism
Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism
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Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism

Narendra, Derek ; Walker, John E ; Youle, Richard

Cold Spring Harbor perspectives in biology, 2012-11-01, Vol.4 (11), p.a011338-a011338 [Peer Reviewed Journal]

United States: Cold Spring Harbor Laboratory Press

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6
Parkinson's disease
Parkinson's disease
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Parkinson's disease

Lees, Andrew J, Prof ; Hardy, John, Prof ; Revesz, Tamas, Prof

The Lancet (British edition), 2009, Vol.373 (9680), p.2055-2066 [Peer Reviewed Journal]

Kidlington: Elsevier Ltd

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7
SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity
SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity
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SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity

Leyva-Illades, Dinorah ; Chen, Pan ; Zogzas, Charles E ; Hutchens, Steven ; Mercado, Jonathan M ; Swaim, Caleb D ; Morrisett, Richard A ; Bowman, Aaron B ; Aschner, Michael ; Mukhopadhyay, Somshuvra

The Journal of neuroscience, 2014-10-15, Vol.34 (42), p.14079-14095 [Peer Reviewed Journal]

United States: Society for Neuroscience

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8
PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36
PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36
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PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

van Duijn, C.M ; Dekker, M.C.J ; Bonifati, V ; Galjaard, R.J ; Houwing-Duistermaat, J.J ; Snijders, P.J.L.M ; Testers, L ; Breedveld, G.J ; Horstink, M ; Sandkuijl, L.A ; van Swieten, J.C ; Oostra, B.A ; Heutink, P

American journal of human genetics, 2001, Vol.69 (3), p.629-634 [Peer Reviewed Journal]

United States: Elsevier Inc

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9
ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein
ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein
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ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein

Tsunemi, Taiji ; Hamada, Kana ; Krainc, Dimitri

The Journal of neuroscience, 2014-11-12, Vol.34 (46), p.15281-15287 [Peer Reviewed Journal]

United States: Society for Neuroscience

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10
Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation
Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation
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Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

Tsunemi, Taiji ; Krainc, Dimitri

Human molecular genetics, 2014-06-01, Vol.23 (11), p.2791-2801 [Peer Reviewed Journal]

England: Oxford University Press

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11
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction
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Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

Park, Jin-Sung ; Koentjoro, Brianada ; Veivers, David ; Mackay-Sim, Alan ; Sue, Carolyn M

Human molecular genetics, 2014-06-01, Vol.23 (11), p.2802-2815 [Peer Reviewed Journal]

England: Oxford University Press

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12
Olfaction in Parkinson's disease and related disorders
Olfaction in Parkinson's disease and related disorders
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Olfaction in Parkinson's disease and related disorders

Doty, Richard L

Neurobiology of disease, 2011, Vol.46 (3), p.527-552 [Peer Reviewed Journal]

United States: Elsevier Inc

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13
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
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Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

Puschmann, Andreas

Parkinsonism & related disorders, 2013, Vol.19 (4), p.407-415 [Peer Reviewed Journal]

England: Elsevier Ltd

Full text available online

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14
Loss-of-Function of Human PINK1 Results in Mitochondrial Pathology and Can Be Rescued by Parkin
Loss-of-Function of Human PINK1 Results in Mitochondrial Pathology and Can Be Rescued by Parkin
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Loss-of-Function of Human PINK1 Results in Mitochondrial Pathology and Can Be Rescued by Parkin

Exner, Nicole ; Treske, Bettina ; Paquet, Dominik ; Holmstrom, Kira ; Schiesling, Carola ; Gispert, Suzana ; Carballo-Carbajal, Iria ; Berg, Daniela ; Hoepken, Hans-Hermann ; Gasser, Thomas ; Kruger, Rejko ; Winklhofer, Konstanze F ; Vogel, Frank ; Reichert, Andreas S ; Auburger, Georg ; Kahle, Philipp J ; Schmid, Bettina ; Haass, Christian

The Journal of neuroscience, 2007-11-07, Vol.27 (45), p.12413-12418 [Peer Reviewed Journal]

United States: Soc Neuroscience

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15
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
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DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

Bonifati, Vincenzo ; Squitieri, Ferdinando ; Krieger, Elmar ; Vanacore, Nicola ; Swieten, John ; Brice, A ; Duijn, Cornelia ; Meco, Giuseppe ; Heutink, Peter ; Oostra, Ben ; Rizzu, Patrizia

Neurological sciences, 2003-10-01, Vol.24 (3), p.159-160 [Peer Reviewed Journal]

Milan: Springer-Verlag

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16
Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1
Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1
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Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1

Lai, Yu‐Chiang ; Kondapalli, Chandana ; Lehneck, Ronny ; Procter, James B ; Dill, Brian D ; Woodroof, Helen I ; Gourlay, Robert ; Peggie, Mark ; Macartney, Thomas J ; Corti, Olga ; Corvol, Jean‐Christophe ; Campbell, David G ; Itzen, Aymelt ; Trost, Matthias ; Muqit, Miratul MK

The EMBO journal, 2015-11-12, Vol.34 (22), p.2840-2861 [Peer Reviewed Journal]

England: EMBO Press

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17
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
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FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

Fonzo, A. Di ; Dekker, M.C.J ; Montagna, P ; Baruzzi, A ; Yonova, E.H ; Correia Guedes, L ; Szczerbinska, A ; Zhao, T ; Dubbel-Hulsman, L.O ; Wouters, C.H ; Graaff, E. de ; Oyen, W.J.G ; Simons, E.J ; Breedveld, G.J ; Oostra, B.A ; Horstink, M.W.I.M ; Bonifati, V

Neurology, 2009, Vol.72 (3), p.240-245 [Peer Reviewed Journal]

United States

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18
Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers
Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers
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Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers

Fraser, Kyle B ; Moehle, Mark S ; Alcalay, Roy N ; West, Andrew B

Neurology, 2016-03-15, Vol.86 (11), p.994-999 [Peer Reviewed Journal]

United States: American Academy of Neurology

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19
Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis
Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis
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Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis

Carballo-Carbajal, Iria ; Laguna, Ariadna ; Romero-Giménez, Jordi ; Cuadros, Thais ; Bové, Jordi ; Martinez-Vicente, Marta ; Parent, Annabelle ; Gonzalez-Sepulveda, Marta ; Peñuelas, Núria ; Torra, Albert ; Rodríguez-Galván, Beatriz ; Ballabio, Andrea ; Hasegawa, Takafumi ; Bortolozzi, Analía ; Gelpi, Ellen ; Vila, Miquel

Nature communications, 2019-03-07, Vol.10 (1), p.973-973 [Peer Reviewed Journal]

England: Nature Publishing Group

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20
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2 , encoding a lysosomal type 5 P-type ATPase
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2 , encoding a lysosomal type 5 P-type ATPase
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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2 , encoding a lysosomal type 5 P-type ATPase

Al-Din, Amir ; Hillmer, Axel M ; Gründemann, Jan ; Goebel, Ingrid ; Woods, C Geoffrey ; Stiller, Barbara ; Wriekat, Abdul-Latif ; Heimbach, André ; Mubaidin, Ammar F ; Behrens, Maria I ; Cid, L Pablo ; Karsak, Meliha ; Ramirez, Alfredo ; Kubisch, Christian ; Liss, Birgit ; Hampshire, Dan ; Roeper, Jochen

Nature genetics, 2006-10, Vol.38 (10), p.1184-1191 [Peer Reviewed Journal]

London: Nature Publishing Group

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