Browse by UCL people
Group by: Type | Date
Number of items: 43.
2024
Bhore, Noopur;
Bogacki, Erin C;
O'Callaghan, Benjamin;
Plun-Favreau, Helene;
Lewis, Patrick A;
Herbst, Susanne;
(2024)
Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.
Philosophical Transactions of the Royal Society B: Biological Sciences
, 379
(1899)
, Article 20220517. 10.1098/rstb.2022.0517.
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2023
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Hicks, Amy R;
Reynolds, Regina H;
O'Callaghan, Ben;
Garcia Ruiz, Sonia;
Gil Martinez, Ana Luisa;
Botia, Juan;
Plun-Favreau, Helene;
(2023)
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease.
Brain
, Article awad246. 10.1093/brain/awad246.
(In press).
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Kelly, Katie;
Lewis, Patrick A;
Plun-Favreau, Helene;
Manzoni, Claudia;
(2023)
Protein network analysis links the NSL complex to Parkinson's disease via mitochondrial and nuclear biology.
Molecular Omics
10.1039/d2mo00325b.
(In press).
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O'Callaghan, Benjamin;
Hardy, John;
Plun-Favreau, Helene;
(2023)
PINK1: From Parkinson's disease to mitophagy and back again.
PLoS Biology
, 21
(6)
, Article e3002196. 10.1371/journal.pbio.3002196.
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2021
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Blackstone, C;
Elwood, F;
Plun-Favreau, H;
Lewis, PA;
(2021)
Vesicle trafficking and pathways to neurodegeneration.
Molecular Neurodegeneration
, 16
(1)
, Article 56. 10.1186/s13024-021-00480-1.
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Blauwendraat, C;
Iwaki, H;
Makarious, MB;
Bandres-Ciga, S;
Leonard, H;
Grenn, FP;
Lake, J;
... Lynch, TL; + view all
(2021)
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Annals of Neurology
, 90
(1)
pp. 35-42.
10.1002/ana.26090.
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Chen, Z;
Zhang, D;
Reynolds, RH;
Gustavsson, EK;
García-Ruiz, S;
D'Sa, K;
Fairbrother-Browne, A;
... Ryten, M; + view all
(2021)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature Communications
, 12
, Article 2076. 10.1038/s41467-021-22262-5.
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Klionsky, DJ;
Abdel-Aziz, AK;
Abdelfatah, S;
Abdellatif, M;
Abdoli, A;
Abel, S;
Abeliovich, H;
... Taylor, A; + view all
(2021)
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Autophagy
, 17
(1)
pp. 1-382.
10.1080/15548627.2020.1797280.
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Poon, A;
Saini, H;
Sethi, S;
O'Sullivan, GA;
Plun-Favreau, H;
Wray, S;
Dawson, LA;
(2021)
The role of SQSTM1 (p62) in mitochondrial function and clearance in human cortical neurons.
Stem Cell Reports
10.1016/j.stemcr.2021.03.030.
(In press).
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Storm, CS;
Kia, DA;
Almramhi, MM;
Bandres-Ciga, S;
Finan, C;
Hingorani, AD;
Wood, NW;
(2021)
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.
Nature Communications
, 12
(1)
, Article 7342. 10.1038/s41467-021-26280-1.
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2020
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Guelfi, S;
D'Sa, K;
Botía, JA;
Vandrovcova, J;
Reynolds, RH;
Zhang, D;
Trabzuni, D;
... Ryten, M; + view all
(2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Nature Communications
, 11
, Article 1041. 10.1038/s41467-020-14483-x.
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Lewis, PA;
Plun-Favreau, H;
Rowley, M;
Spillane, J;
(2020)
Pierre D. and the first photographs of Parkinson's disease.
Movement Disorders
10.1002/mds.27965.
(In press).
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Mencacci, NE;
Reynolds, R;
Ruiz, SG;
Vandrovcova, J;
Forabosco, P;
Sánchez-Ferrer, A;
Volpato, V;
... Ryten, M; + view all
(2020)
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Brain
, Article awaa217. 10.1093/brain/awaa217.
(In press).
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Xie, C;
Aman, Y;
Adriaanse, BA;
Cader, MZ;
Plun-Favreau, H;
Xiao, J;
Fang, EF;
(2020)
Culprit or Bystander: Defective Mitophagy in Alzheimer's Disease.
Frontiers in Cell and Developmental Biology
, 7
, Article 391. 10.3389/fcell.2019.00391.
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2019
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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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Billingsley, KJ;
Barbosa, IA;
Bandrés-Ciga, S;
Quinn, JP;
Bubb, VJ;
Deshpande, C;
Botia, JA;
... Koks, S; + view all
(2019)
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
npj Parkinson's Disease
, 5
, Article 8. 10.1038/s41531-019-0080-x.
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Nalls, MA;
Blauwendraat, C;
Vallerga, CL;
Heilbron, K;
Bandres-Ciga, S;
Chang, D;
Tan, M;
... Guerreiro, R; + view all
(2019)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
The Lancet Neurology
, 18
(12)
pp. 1091-1102.
10.1016/S1474-4422(19)30320-5.
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Reynolds, RH;
Botía, J;
Nalls, MA;
International Parkinson’s Disease Genomics Consortium (IPDGC), .;
System Genomics of Parkinson’s Disease (SGPD), .;
Hardy, J;
Gagliano Taliun, SA;
(2019)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
NPJ Parkinson's Disease
, 5
, Article 6. 10.1038/s41531-019-0076-6.
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Soutar, MPM;
Kempthorne, L;
Annuario, E;
Luft, C;
Wray, S;
Ketteler, R;
Ludtmann, MHR;
(2019)
FBS/BSA media concentration determines CCCP's ability to depolarize mitochondria and activate PINK1-PRKN mitophagy.
Autophagy
, 15
(11)
pp. 2002-2011.
10.1080/15548627.2019.1603549.
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2018
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Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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Blauwendraat, C;
Reed, X;
Kia, DA;
Gan-Or, Z;
Lesage, S;
Pihlstrøm, L;
Guerreiro, R;
... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all
(2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA Neurology
10.1001/jamaneurol.2018.1885.
(In press).
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Denny, P;
Feuermann, M;
Hill, DP;
Lovering, RC;
Plun-Favreau, H;
Roncaglia, P;
(2018)
Exploring autophagy with Gene Ontology.
Autophagy
, 14
(3)
pp. 419-436.
10.1080/15548627.2017.1415189.
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Manzoni, C;
Mamais, A;
Dihanich, S;
Soutar, MPM;
Plun-Favreau, H;
Bandopadhyay, R;
Abeti, R;
... Lewis, PA; + view all
(2018)
mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition.
Bioscience Reports
, 38
(2)
, Article BSR20171669. 10.1042/BSR20171669.
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Soutar, MPM;
Kempthorne, L;
Miyakawa, S;
Annuario, E;
Melandri, D;
Harley, J;
O'Sullivan, GA;
... Plun-Favreau, H; + view all
(2018)
AKT signalling selectively regulates PINK1 mitophagy in SHSY5Y cells and human iPSC-derived neurons.
Science Reports
, 8
(1)
, Article 8855. 10.1038/s41598-018-26949-6.
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2017
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Blauwendraat, C;
Faghri, F;
Pihlstrom, L;
Geiger, JT;
Elbaz, A;
Lesage, S;
Corvol, J-C;
... Scholz, S; + view all
(2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Neurobiology of Aging
, 57
247.e9-247.e13.
10.1016/j.neurobiolaging.2017.05.009.
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Delgado-Camprubi, M;
Esteras, N;
Soutar, MP;
Plun-Favreau, H;
Abramov, AY;
(2017)
Deficiency of Parkinson's disease-related gene Fbxo7 is associated with impaired mitochondrial metabolism by PARP activation.
Cell Death and Differentiation
, 24
(1)
pp. 120-131.
10.1038/cdd.2016.104.
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Delgado-Camprubi, M;
Esteras, N;
Soutar, MPM;
Plun-Favreau, H;
Abramov, AY;
(2017)
Deficiency of Parkinson's disease-related gene Fbxo7 is associated with impaired mitochondrial metabolism by PARP activation (vol 24, pg 120, 2017).
[Addendum].
Cell Death and Differentiation
, 24
p. 2210.
10.1038/cdd.2017.175.
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Gandhi, S;
Plun-Favreau, H;
(2017)
Mutations and mechanism: how PINK1 may contribute to risk of sporadic Parkinson's disease.
Brain
, 140
(1)
pp. 2-5.
10.1093/brain/aww320.
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Lynch, David S;
(2017)
The genetics of inherited disorders of white matter and related neurodegenerative diseases.
Doctoral thesis (Ph.D), UCL (University College London).
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Lynch, DS;
Loh, SHY;
Harley, J;
Noyce, AJ;
Martins, LM;
Wood, NW;
Houlden, H;
(2017)
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations.
Neurology Genetics
, 3
(5)
, Article e188. 10.1212/NXG.0000000000000188.
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2016
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Berezhnov, AV;
Soutar, MPM;
Fedotova, EI;
Frolova, MS;
Plun-Favreau, H;
Zinchenko, VP;
Abramov, AY;
(2016)
Intracellular pH Modulates Autophagy and Mitophagy.
Journal of Biological Chemistry
, 291
(16)
pp. 8701-8708.
10.1074/jbc.M115.691774.
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Manzoni, C;
Mamais, A;
Roosen, DA;
Dihanich, S;
Soutar, MPM;
Plun-Favreau, H;
Bandopadhyay, R;
... Lewis, PA; + view all
(2016)
mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1.
Scientific Reports
, 6
, Article 35106. 10.1038/srep35106.
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2014
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Birsa, N;
Norkett, R;
Wauer, T;
Mevissen, TE;
Wu, HC;
Foltynie, T;
Bhatia, K;
... Kittler, JT; + view all
(2014)
Lysine 27 Ubiquitination of the Mitochondrial Transport Protein Miro Is Dependent on Serine 65 of the Parkin Ubiquitin Ligase.
J Biol Chem
, 289
(21)
pp. 14569-14582.
10.1074/jbc.M114.563031.
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2013
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Bartolome, F;
Wu, HC;
Burchell, VS;
Preza, E;
Wray, S;
Mahoney, CJ;
Fox, NC;
... Plun-Favreau, H; + view all
(2013)
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.
Neuron
, 78
(1)
57 - 64.
10.1016/j.neuron.2013.02.028.
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Burchell, VS;
Nelson, DE;
Sanchez-Martinez, A;
Delgado-Camprubi, M;
Ivatt, RM;
Pogson, JH;
Randle, SJ;
... Plun-Favreau, H; + view all
(2013)
The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.
Nature Neuroscience
, 16
(9)
pp. 1257-1265.
10.1038/nn.3489.
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Manzoni, C;
Mamais, A;
Dihanich, S;
Abeti, R;
Soutar, MP;
Plun-Favreau, H;
Giunti, P;
... Lewis, PA; + view all
(2013)
Inhibition of LRRK2 kinase activity stimulates macroautophagy.
Biochim Biophys Acta
, 1833
(12)
pp. 2900-2910.
10.1016/j.bbamcr.2013.07.020.
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Manzoni, C;
Mamais, A;
Dihanich, S;
McGoldrick, P;
Devine, MJ;
Zerle, J;
Kara, E;
... Lewis, PA; + view all
(2013)
Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.
Biochemical and Biophysical Research Communications
, 441
(4)
pp. 862-866.
10.1016/j.bbrc.2013.10.159.
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2012
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Plun-Favreau, H;
Burchell, VS;
Holmström, KM;
Yao, Z;
Deas, E;
Cain, K;
Fedele, V;
... Abramov, AY; + view all
(2012)
HtrA2 deficiency causes mitochondrial uncoupling through the F₁F₀-ATP synthase and consequent ATP depletion.
Cell Death and Disease
, 3
, Article e335. 10.1038/cddis.2012.77.
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2011
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Deas, E;
Plun-Favreau, H;
Gandhi, S;
Desmond, H;
Kjaer, S;
Loh, SHY;
Renton, AEM;
... Wood, NW; + view all
(2011)
PINK1 cleavage at position A103 by the mitochondrial protease PARL.
Human Molecular Genetics
, 20
(5)
pp. 867-879.
10.1093/hmg/ddq526.
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Deas, E;
Wood, NW;
Plun-Favreau, H;
(2011)
Mitophagy and Parkinson's disease: The PINK1–parkin link.
[Review].
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
, 1813
(4)
623 - 633.
10.1016/j.bbamcr.2010.08.007.
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Yao, Z;
Gandhi, S;
Burchell, VS;
Plun-Favreau, H;
Wood, NW;
Abramov, AY;
(2011)
Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease.
Journal of Cell Science
, 124
(24)
pp. 4194-4202.
10.1242/jcs.088260.
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2010
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Plun-Favreau, H;
Lewis, PA;
Hardy, J;
Martins, LM;
Wood, NW;
(2010)
Cancer and neurodegeneration: between the devil and the deep blue sea.
PLoS Genetics
, 6
(12)
, Article e1001257. 10.1371/journal.pgen.1001257.
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