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Keywords: Parkinson's disease
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Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (4): 1909–1919.
Published: 31 July 2024
...Luis Bonet-Ponce; Jillian H. Kluss; Mark R. Cookson Lysosomes are dynamic cellular structures that adaptively remodel their membrane in response to stimuli, including membrane damage. Lysosomal dysfunction plays a central role in the pathobiology of Parkinson's disease (PD). Gain-of-function...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (3): 1275–1291.
Published: 30 May 2024
... dysregulation and deficiency, particularly Parkinson's disease and rare inherited disorders leading predominantly to dystonia and/or parkinsonism, even in childhood. Although levodopa is relatively effective for the management of motor dysfunctions, it is less effective for severe forms of parkinsonism...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (2): 539–551.
Published: 25 March 2024
... of the University of Oxford in an all-inclusive Read & Publish agreement with Portland Press and the Biochemical Society under a transformative agreement with JISC. CRISPR functional genomics high-throughput screening induced pluripotent stem cells neurodegeneration Parkinson's disease...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2023) 51 (2): 797–809.
Published: 06 April 2023
...Mario K. Shammas; Tzu-Hsiang Huang; Derek P. Narendra In the last decade, dominant mutations in the mitochondrial protein CHCHD10 (p.R15L and p.S59L) and its paralog CHCHD2 (p.T61I) were shown to cause familial amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD), respectively...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2023) 51 (2): 587–595.
Published: 17 March 2023
...Rachel Fasiczka; Yahaira Naaldijk; Besma Brahmia; Sabine Hilfiker Point mutations in leucine-rich repeat kinase 2 (LRRK2) which cause Parkinson's disease increase its kinase activity, and a subset of Rab GTPases have been identified as endogenous LRRK2 kinase substrates. Their phosphorylation...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2023) 51 (1): 245–257.
Published: 16 February 2023
... of action. Both have been in the clinical trials for the most common synucleinopathy, Parkinson's disease. With the AAV-GDNF clinical trials ongoing and the CDNF trial being finalized, their effects on abnormal alpha-synuclein accumulation are of great interest. Previous animal studies with an alpha...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2022) 50 (5): 1303–1314.
Published: 16 September 2022
...Laura E. Shippey; Susan G. Campbell; Andrew F. Hill; David P. Smith Parkinson's disease (PD) is a common neurodegenerative condition affecting a significant number of individuals globally, resulting in the presentation of debilitating motor and non-motor symptoms, including bradykinesia, resting...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2022) 50 (1): 621–632.
Published: 28 February 2022
...Federica Albanese; Chiara Domenicale; Mattia Volta; Michele Morari Mutations in the leucine-rich repeat kinase 2 ( LRRK2 ) gene are associated with familial and sporadic forms of Parkinson's disease (PD), for which the LRRK2 locus itself represents a risk factor. Idiopathic and LRRK2-related PD...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2021) 49 (3): 1375–1384.
Published: 07 May 2021
...Alice Filippini; Massimo Gennarelli; Isabella Russo Missense mutations in the leucine-rich repeat kinase-2 ( LRRK2 ) gene represent the most common cause of autosomal dominant Parkinson's disease (PD). In the years LRRK2 has been associated with several organelles and related pathways in cell...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2020) 48 (5): 2185–2194.
Published: 20 October 2020
...Ahmed Soliman; Fatma Nihan Cankara; Arjan Kortholt Parkinson's disease (PD) is the second most common neurodegenerative disease. In recent years, it has been shown that leucine-rich repeat kinase 2 (LRRK2) has a crucial function in both familial and sporadic forms of PD. LRRK2 pathogenic mutations...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2020) 48 (4): 1795–1806.
Published: 14 August 2020
...). Evidence of immature, wild-type SOD1 misfolding has also been observed in sporadic ALS, non-SOD1 familial ALS and Parkinson's disease. The copper chaperone for SOD1 (hCCS) is a dedicated and specific chaperone that assists SOD1 folding and maturation to produce the active enzyme. Misfolded or misfolding...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2019) 47 (6): 1581–1595.
Published: 26 November 2019
...Rebecca L. Wallings; Malú G. Tansey Mutations in the leucine-rich-repeat kinase 2 ( LRRK2 ) gene are associated with familial and sporadic cases of Parkinson's disease but are also found in immune-related disorders such as inflammatory bowel disease, tuberculosis and leprosy. LRRK2 is highly...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2019) 47 (3): 827–838.
Published: 13 May 2019
...Tiago Fleming Outeiro; Kirsten Harvey; Antonio Dominguez-Meijide; Ellen Gerhardt The identification of genetic forms of Parkinson's disease (PD) has tremendously expanded our understanding of the players and mechanisms involved. Mutations in the genes encoding for alpha-synuclein (aSyn), LRRK2...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2019) 47 (2): 651–661.
Published: 05 March 2019
...Jillian H. Kluss; Adamantios Mamais; Mark R. Cookson The past two decades in research has revealed the importance of leucine-rich repeat kinase 2 (LRRK2) in both monogenic and sporadic forms of Parkinson's disease (PD). In families, mutations in LRRK2 can cause PD with age-dependent but variable...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2018) 46 (6): 1653–1663.
Published: 22 November 2018
...Laura Civiero; Susanna Cogo; Alice Biosa; Elisa Greggio Leucine-rich repeat kinase 2 (LRRK2), a complex kinase/GTPase mutated in Parkinson's disease, has been shown to physically and functionally interact with cytoskeletal-related components in different brain cells. Neurons greatly rely...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2018) 46 (6): 1707–1712.
Published: 22 November 2018
...Suzanne R. Pfeffer Leucine-rich repeat kinase 2 (LRRK2) is mutated in familial Parkinson's disease, and pathogenic mutations activate the kinase activity. A tour de force screen by Mann and Alessi and co-workers identified a subset of Rab GTPases as bona fide LRRK2 substrates. Rab GTPases...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2018) 46 (4): 891–909.
Published: 19 July 2018
... for mitochondrial abnormalities in the two most common neurodegenerative diseases, Parkinson's disease and Alzheimer's disease. In addition, we discuss the main strategies which have been explored in these diseases to target the mitochondria for therapeutic purposes, focusing on mitochondrially targeted...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 207–212.
Published: 15 February 2017
...Jean-Marc Taymans; Eugénie Mutez; Matthieu Drouyer; William Sibran; Marie-Christine Chartier-Harlin Leucine-rich repeat kinase 2 (LRRK2) is a complex signalling protein that is a key therapeutic target, particularly in Parkinson's disease (PD). In addition, there is now evidence showing that LRRK2...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 141–146.
Published: 15 February 2017
...Marian Blanca Ramírez; Antonio Jesús Lara Ordóñez; Elena Fdez; Sabine Hilfiker Mutations in the Leucine-Rich Repeat Kinase 2 ( LRRK2 ) gene are intimately linked to both familial and sporadic Parkinson's disease. LRRK2 is a large protein kinase able to bind and hydrolyse GTP. A wealth of in vitro...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 261–267.
Published: 15 February 2017
...Elisa Greggio; Luigi Bubacco; Isabella Russo Evidence indicates that leucine-rich repeat kinase 2 (LRRK2) controls multiple processes in neurons and glia cells. Deregulated LRRK2 activity due to gene mutation represents the most common cause of autosomal dominant Parkinson's disease (PD). Protein...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 163–172.
Published: 15 February 2017
...Md. Shariful Islam; Darren J. Moore Mutations in the leucine-rich repeat kinase 2 ( LRRK2 ) gene are the most common cause of familial Parkinson's disease (PD) with autosomal dominant inheritance. Accordingly, LRRK2 has emerged as a promising therapeutic target for disease modification in PD. Since...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 131–139.
Published: 15 February 2017
...Heyne Lee; William S. James; Sally A. Cowley Mutations in the leucine-rich repeat kinase 2 ( LRRK2 ) gene are found in familial and idiopathic cases of Parkinson's disease (PD), but are also associated with immune-related disorders, notably Crohn's disease and leprosy. Although the physiological...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 155–162.
Published: 15 February 2017
..., therefore, controlling a plethora of diverse functions based on the different complexes formed. Among these, I will then focus on macroautophagy in the general context of the endolysosomal system. First, the relevance of autophagy in Parkinson's disease will be evaluated giving a brief overview of all...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2017) 45 (1): 113–122.
Published: 15 February 2017
...Mattia Volta; Heather Melrose Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of familial Parkinson's disease (PD), resembling the sporadic disorder. Intensive effort has been directed toward LRRK2 mouse modeling and investigation, aimed at reproducing the human...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2016) 44 (6): 1611–1616.
Published: 02 December 2016
...Susanne Terheyden; Laura M. Nederveen-Schippers; Arjan Kortholt Mutations in the human leucine-rich repeat kinase 2 (LRRK2) are the most frequent cause of hereditary Parkinson's disease (PD). LRRK2 belongs to the Roco family of proteins, which are characterized by the presence of a Ras of complex...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2016) 44 (6): 1625–1634.
Published: 02 December 2016
...Jonathon Nixon-Abell; Daniel C. Berwick; Kirsten Harvey Leucine-rich repeat kinase 2 (LRRK2) is a central protein in the pathogenesis of Parkinson's disease (PD), yet its normal function has proved stubbornly hard to elucidate. Even though it remains unclear how pathogenic mutations affect LRRK2...
Articles
Pilar Rivero-Ríos, Patricia Gómez-Suaga, Belén Fernández, Jesús Madero-Pérez, Andrew J. Schwab, Allison D. Ebert, Sabine Hilfiker
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2015) 43 (3): 390–395.
Published: 01 June 2015
...Pilar Rivero-Ríos; Patricia Gómez-Suaga; Belén Fernández; Jesús Madero-Pérez; Andrew J. Schwab; Allison D. Ebert; Sabine Hilfiker Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene comprise the most common cause of familial Parkinson's disease (PD), and variants increase the risk...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2015) 43 (2): 275–279.
Published: 07 April 2015
...Melissa Vos; Patrik Verstreken; Christine Klein Parkinson's disease (PD) is a neurodegenerative motor disorder characterized by the loss of dopaminergic neurons. This loss of dopaminergic neurons is the pathological hallmark of the disease that results in the characteristic motor syndrome...
Articles
Graziella Cappelletti, Francesca Casagrande, Alessandra Calogero, Carmelita De Gregorio, Gianni Pezzoli, Daniele Cartelli
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2015) 43 (2): 292–296.
Published: 07 April 2015
... of neuronal polarity, axonal transport and synaptic plasticity. The concept that MT dysfunction can participate in, and perhaps lead to, Parkinson's disease (PD) progression has been suggested by studies using toxin-based and genetic experimental models of the disease. Here, we first learn lessons from MPTP...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2015) 43 (2): 280–286.
Published: 07 April 2015
...Liesbeth Aerts; Bart De Strooper; Vanessa A. Morais PINK1 [phosphatase and tensin homologue (PTEN)-induced putative kinase 1] is a serine/threonine kinase targeted to mitochondria and implicated in early-onset recessive Parkinson's disease (PD). Through the phosphorylation of its downstream targets...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2015) 43 (2): 302–307.
Published: 07 April 2015
...Aleksandar Rakovic; Philip Seibler; Christine Klein Parkinson disease (PD) is a degenerative disorder of the central nervous system resulting from depletion of dopaminergic neurons and currently remains incurable despite enormous international research efforts. The development of induced...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2014) 42 (6): 1762–1767.
Published: 17 November 2014
... to the formation of inclusions as clinical symptoms. The co-enrichment and co-localization of TPPP/p25 and α-synuclein were established in human-brain inclusions characteristic of Parkinson's disease (PD) and other synucleinopathies. The binding segments on TPPP/p25 involved in the physiological...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2014) 42 (5): 1291–1301.
Published: 18 September 2014
... ) . 29 4 2014 © The Authors Journal compilation © 2014 Biochemical Society 2014 Alzheimer’s disease amyotrophic lateral sclerosis glia Huntington’s disease neurodegeneration Parkinson’s disease Neuroglia, represented by highly heterogeneous population of non-excitable cells...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2014) 42 (2): 600–604.
Published: 20 March 2014
...M. Angela Cenci PD (Parkinson's disease) is characterized by some typical motor features that are caused by striatal dopamine depletion and respond well to dopamine-replacement therapy with L -dopa. Unfortunately, the majority of PD patients treated with L -dopa develop abnormal involuntary...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2013) 41 (6): 1618–1624.
Published: 20 November 2013
... of mitochondria to areas of higher energy requirements, such as synapses, where mitochondrial densities fluctuate, further highlights the importance of efficient mitochondrial dynamics in neurons. PD (Parkinson's disease) is a common progressive neurodegenerative disorder which is characterized by the loss...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2013) 41 (6): 1509–1512.
Published: 20 November 2013
...Ryan P. McGlinchey; Jennifer C. Lee Mutations in the GBA1 gene, encoding the enzyme glucocerebrosidase, cause the lysosomal storage disorder GD (Gaucher’s disease), and are associated with the development of PD (Parkinson's disease) and other Lewy body disorders. Interestingly, GBA1 variants...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2013) 41 (6): 1513–1517.
Published: 20 November 2013
...David R. Brown Many proteins associated with neurodegenerative diseases have poorly defined or unknown functions. α-Synuclein is one such protein which is associated with a range of diseases including Parkinson's disease. Now accepted as a metal-binding protein, α-synuclein's function could...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1042–1046.
Published: 19 September 2012
...Youren Tong; Jie Shen Mutations in LRRK2 (leucine-rich repeat kinase 2) are the most common genetic cause of PD (Parkinson's disease). To investigate how mutations in LRRK2 cause PD, we generated LRRK2 mutant mice either lacking its expression or expressing the R1441C mutant form. Homozygous R1441C...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1058–1062.
Published: 19 September 2012
...Elisa Greggio Interest in studying the biology of LRRK2 (leucine-rich repeat kinase 2) started in 2004 when missense mutations in the LRRK2 gene were linked to an inherited form of Parkinson's disease with clinical and pathological presentation resembling the sporadic syndrome. LRRK2 is a complex...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1080–1085.
Published: 19 September 2012
...Maximilian Sloan; Javier Alegre-Abarrategui; Richard Wade-Martins Mutations in the LRRK2 (leucine-rich repeat kinase 2) gene on chromosome 12 cause autosomal dominant PD (Parkinson's disease), which is indistinguishable from sporadic forms of the disease. Numerous attempts have therefore been made...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1102–1110.
Published: 19 September 2012
...Evy Lobbestael; Veerle Baekelandt; Jean-Marc Taymans The PD (Parkinson's disease) protein LRRK2 (leucine-rich repeat kinase 2) occurs in cells as a highly phosphorylated protein, with the majority of phosphosites clustering in the region between the ankyrin repeat and leucine-rich repeat domains...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1039–1041.
Published: 19 September 2012
...Patrick A. Lewis; Dario R. Alessi LRRK2 (leucine-rich repeat kinase 2) is a gene of unknown function that has been linked to a number a human diseases, including PD (Parkinson's disease), IBD (inflammatory bowel disease), leprosy and cancer. The papers from the LRRK2: Function and Dysfunction...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1152–1157.
Published: 19 September 2012
... previously inaccessible. In the case of PD (Parkinson's disease), reprogramming is advancing rapidly, and cell lines have been generated from patients carrying mutations in several disease-associated genes, including SNCA (α-synuclein), PARK2 (parkin), PINK1 (phosphatase and tensin homologue deleted...
Articles
José M. Bravo-San Pedro, Rubén Gómez-Sánchez, Mireia Niso-Santano, Elisa Pizarro-Estrella, Rosa A. González-Polo, José M. Fuentes
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1129–1133.
Published: 19 September 2012
...José M. Bravo-San Pedro; Rubén Gómez-Sánchez; Mireia Niso-Santano; Elisa Pizarro-Estrella; Rosa A. González-Polo; José M. Fuentes PD (Parkinson's disease) is a neurodegenerative disorder caused by loss of dopamine-generating cells in the substantia nigra. The implication of genetic factors...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1086–1089.
Published: 19 September 2012
... Biochemical Society 2012 In 2004, two landmark reports first identified mutations in the large multi-domain LRRK2 (leucine-rich repeat kinase 2) as causing late-onset autosomal-dominant Parkinson's disease [ 1 , 2 ]. Various investigations have also indicated the presence of armadillo, ankyrin and WD40...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1063–1069.
Published: 19 September 2012
... proteins) subfamily. Studies with recombinant LRRK2 protein purified from eukaryotic cells have confirmed that LRRK2 binds guanine nucleotides and catalyses the hydrolysis of GTP to GDP. LRRK2 is linked to PD (Parkinson's disease) and GTPase activity is impaired for several PD mutants located in the ROC...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1111–1116.
Published: 19 September 2012
...Elisa Belluzzi; Elisa Greggio; Giovanni Piccoli PD (Parkinson's disease) is a common neurodegenerative disease clinically characterized by bradykinesia, rigidity and resting tremor. Recent studies have proposed that synaptic dysfunction, implicated in numerous studies of animal models of PD, might...
Articles
Jing Zhao, Spencer B. Hermanson, Coby B. Carlson, Steven M. Riddle, Kurt W. Vogel, Kun Bi, R. Jeremy Nichols
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1158–1162.
Published: 19 September 2012
...Jing Zhao; Spencer B. Hermanson; Coby B. Carlson; Steven M. Riddle; Kurt W. Vogel; Kun Bi; R. Jeremy Nichols Mutations in LRRK2 (leucine-rich repeat kinase 2) have been linked to inherited forms of PD (Parkinson's disease). Substantial pre-clinical research and drug discovery efforts have focused...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1134–1139.
Published: 19 September 2012
...Nicolas Dzamko; Glenda M. Halliday Missense mutations in LRRK2 (leucine-rich repeat kinase 2) contribute significantly to autosomal dominant PD (Parkinson's disease). Genome-wide association studies have suggested further that mutations in LRRK2 comprise a risk factor for sporadic PD. How LRRK2...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2012) 40 (5): 1070–1073.
Published: 19 September 2012
...Mark R. Cookson Mutations in LRRK2 (leucine-rich repeat kinase 2) are a relatively common cause of inherited PD (Parkinson's disease), but the mechanism(s) by which mutations lead to disease are poorly understood. In the present paper, I discuss what is known about LRRK2 in cellular models...
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