|
1
|
Kalia LV and Lang AE: Parkinson's disease.
Lancet. 386:896–912. 2015.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Deng H, Wang P and Jankovic J: The
genetics of Parkinson disease. Ageing Res Rev. 42:72–85.
2018.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Hernandez DG, Reed X and Singleton AB:
Genetics in Parkinson disease: Mendelian versus non-Mendelian
inheritance. J Neurochem. 139 (Suppl 1):59–74. 2016.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Kuusimäki T, Korpela J, Pekkonen E,
Martikainen MH, Antonini A and Kaasinen V: Deep brain stimulation
for monogenic Parkinson's disease: A systematic review. J Neurol.
267:883–897. 2020.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Billingsley KJ, Bandres-Ciga S,
Saez-Atienzar S and Singleton AB: Genetic risk factors in
Parkinson's disease. Cell Tissue Res. 373:9–20. 2018.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Kitada T, Asakawa S, Hattori N, Matsumine
H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y and Shimizu N:
Mutations in the parkin gene cause autosomal recessive juvenile
parkinsonism. Nature. 392:605–608. 1998.PubMed/NCBI View
Article : Google Scholar
|
|
7
|
Hattori N and Mizuno Y: Twenty years since
the discovery of the parkin gene. J Neural Transm (Vienna).
124:1037–1054. 2017.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Horowitz M, Wilder S, Horowitz Z, Reiner
O, Gelbart T and Beutler E: The human glucocerebrosidase gene and
pseudogene: Structure and evolution. Genomics. 4:87–96.
1989.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Hruska KS, LaMarca ME, Scott CR and
Sidransky E: Gaucher disease: Mutation and polymorphism spectrum in
the glucocerebrosidase gene (GBA). Hum Mutat. 29:567–583.
2008.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Pulkes T, Choubtum L, Chitphuk S,
Thakkinstian A, Pongpakdee S, Kulkantrakorn K, Hanchaiphiboolkul S,
Tiamkao S and Boonkongchuen P: Glucocerebrosidase mutations in Thai
patients with Parkinson's disease. Parkinsonism Relat Disord.
20:986–991. 2014.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Lwin A, Orvisky E, Goker-Alpan O, LaMarca
ME and Sidransky E: Glucocerebrosidase mutations in subjects with
parkinsonism. Mol Genet Metab. 81:70–73. 2004.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Aharon-Peretz J, Rosenbaum H and
Gershoni-Baruch R: Mutations in the glucocerebrosidase gene and
Parkinson's disease in Ashkenazi Jews. N Engl J Med. 351:1972–1977.
2004.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Sidransky E, Nalls MA, Aasly JO,
Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J,
Brice A, et al: Multicenter analysis of glucocerebrosidase
mutations in Parkinson's disease. N Engl J Med. 361:1651–1661.
2009.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Malek N, Weil RS, Bresner C, Lawton MA,
Grosset KA, Tan M, Bajaj N, Barker RA, Burn DJ, Foltynie T, et al:
PRoBaND clinical consortium: Features of GBA-associated Parkinson's
disease at presentation in the UK Tracking Parkinson's study. J
Neurol Neurosurg Psychiatry. 89:702–709. 2018.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Ziegler SG, Eblan MJ, Gutti U, Hruska KS,
Stubblefield BK, Goker-Alpan O, LaMarca ME and Sidransky E:
Glucocerebrosidase mutations in Chinese subjects from Taiwan with
sporadic Parkinson disease. Mol Genet Metab. 91:195–200.
2007.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Schapira AH: Glucocerebrosidase and
Parkinson disease: Recent advances. Mol Cell Neurosci. 66 (Pt
A):37–42. 2015.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Lippolis R, Siciliano RA, Pacelli C,
Ferretta A, Mazzeo MF, Scacco S, Papa F, Gaballo A, Dell'Aquila C,
De Mari M, et al: Altered protein expression pattern in skin
fibroblasts from parkin-mutant early-onset Parkinson's disease
patients. Biochim Biophys Acta. 1852:1960–1970. 2015.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Rotunno MS, Lane M, Zhang W, Wolf P, Oliva
P, Viel C, Wills AM, Alcalay RN, Scherzer CR, Shihabuddin LS, et
al: Cerebrospinal fluid proteomics implicates the granin family in
Parkinson's disease. Sci Rep. 10(2479)2020.PubMed/NCBI View Article : Google Scholar
|
|
19
|
O'Bryant SE, Edwards M, Zhang F, Johnson
LA, Hall J, Kuras Y and Scherzer CR: Potential two-step proteomic
signature for Parkinson's disease: Pilot analysis in the Harvard
Biomarkers Study. Alzheimers Dement (Amst). 11:374–382.
2019.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Auburger G, Klinkenberg M, Drost J, Marcus
K, Morales-Gordo B, Kunz WS, Brandt U, Broccoli V, Reichmann H,
Gispert S, et al: Primary skin fibroblasts as a model of
Parkinson's disease. Mol Neurobiol. 46:20–27. 2012.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Khwanraj K, Choubtum L, Taweewongsounton
A, Tanrattanakorn S, Pulkes T and Dharmasaroja P: Mitochondrial
Respiratory Chain Enzymatic Activities on Skin Fibroblasts in
Patients With Mutant Glucocerebrosidase and PARK2 Genes. J Neurol
Res. 6:12–17. 2016.
|
|
22
|
Peters SP, Coyle P and Glew RH:
Differentiation of beta-glucocerebrosidase from beta-glucosidase in
human tissues using sodium taurocholate. Arch Biochem Biophys.
175:569–582. 1976.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Chokchaichamnankit D, Watcharatanyatip K,
Subhasitanont P, Weeraphan C, Keeratichamroen S, Sritana N,
Kantathavorn N, Diskul-Na-Ayudthaya P, Saharat K, Chantaraamporn J,
et al: Urinary biomarkers for the diagnosis of cervical cancer by
quantitative label-free mass spectrometry analysis. Oncol Lett.
17:5453–5468. 2019.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Team RC: A language and environment for
statistical computing. R Foundation for Statistical Computing,
Vienna, Austria. www.r-project.org.
|
|
25
|
Szklarczyk D, Gable AL, Lyon D, Junge A,
Wyder S, Huerta-Cepas J, Simonovic M, Doncheva NT, Morris JH, Bork
P, et al: STRING v11: Protein-protein association networks with
increased coverage, supporting functional discovery in genome-wide
experimental datasets. Nucleic Acids Res. 47D:D607–D613.
2019.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Ashburner M, Ball CA, Blake JA, Botstein
D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT,
et al: The Gene Ontology Consortium: Gene ontology: Tool for the
unification of biology. Nat Genet. 25:25–29. 2000.PubMed/NCBI View Article : Google Scholar
|
|
27
|
The Gene Ontology Consortium. The Gene
Ontology Resource: 20 years and still GOing strong. Nucleic Acids
Res. 47D:D330–D338. 2019.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Delamarre A and Meissner WG: Epidemiology,
environmental risk factors and genetics of Parkinson's disease.
Presse Med. 46:175–181. 2017.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Balducci C, Pierguidi L, Persichetti E,
Parnetti L, Sbaragli M, Tassi C, Orlacchio A, Calabresi P, Beccari
T and Rossi A: Lysosomal hydrolases in cerebrospinal fluid from
subjects with Parkinson's disease. Mov Disord. 22:1481–1484.
2007.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Borroni B, Gardoni F, Parnetti L, Magno L,
Malinverno M, Saggese E, Calabresi P, Spillantini MG, Padovani A
and Di Luca M: Pattern of Tau forms in CSF is altered in
progressive supranuclear palsy. Neurobiol Aging. 30:34–40.
2009.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Gegg ME, Burke D, Heales SJ, Cooper JM,
Hardy J, Wood NW and Schapira AH: Glucocerebrosidase deficiency in
substantia nigra of parkinson disease brains. Ann Neurol.
72:455–463. 2012.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Murphy KE, Gysbers AM, Abbott SK, Tayebi
N, Kim WS, Sidransky E, Cooper A, Garner B and Halliday GM: Reduced
glucocerebrosidase is associated with increased α-synuclein in
sporadic Parkinson's disease. Brain. 137:834–848. 2014.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Ortega RA, Torres PA, Swan M, Nichols W,
Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker
V, et al: Glucocerebrosidase enzyme activity in GBA mutation
Parkinson's disease. J Clin Neurosci. 28:185–186. 2016.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Sun M, Latourelle JC, Wooten GF, Lew MF,
Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, et
al: Influence of heterozygosity for parkin mutation on onset age in
familial Parkinson disease: The GenePD study. Arch Neurol.
63:826–832. 2006.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Klein C, Lohmann-Hedrich K, Rogaeva E,
Schlossmacher MG and Lang AE: Deciphering the role of heterozygous
mutations in genes associated with parkinsonism. Lancet Neurol.
6:652–662. 2007.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Wu YR, Wu CH, Chao CY, Kuan CC, Zhang WL,
Wang CK, Chang CY, Chang YC, Lee-Chen GJ and Chen CM: Genetic
analysis of Parkin in early onset Parkinson's disease (PD): Novel
intron 9 g > a single nucleotide polymorphism and risk of
Taiwanese PD. Am J Med Genet B Neuropsychiatr Genet. 153B:229–234.
2010.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Zhang BR, Hu ZX, Yin XZ, Cai M, Zhao GH,
Liu ZR and Luo W: Mutation analysis of parkin and PINK1 genes in
early-onset Parkinson's disease in China. Neurosci Lett. 477:19–22.
2010.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Kay DM, Moran D, Moses L, Poorkaj P,
Zabetian CP, Nutt J, Factor SA, Yu CE, Montimurro JS, Keefe RG, et
al: Heterozygous parkin point mutations are as common in control
subjects as in Parkinson's patients. Ann Neurol. 61:47–54.
2007.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Shulskaya MV, Shadrina MI, Fedotova EY,
Abramycheva NY, Limborska SA, Illarioshkin SN and Slominsky PA:
Second mutation in PARK2 is absent in patients with sporadic
Parkinson's disease and heterozygous exonic deletions/duplications
in parkin gene. Int J Neurosci. 127:781–784. 2017.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Collins LM, Williams-Gray CH, Morris E,
Deegan P, Cox TM and Barker RA: The motor and cognitive features of
Parkinson's disease in patients with concurrent Gaucher disease
over 2 years: A case series. J Neurol. 265:1789–1794.
2018.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Assinder SJ, Stanton JA and Prasad PD:
Transgelin: An actin-binding protein and tumour suppressor. Int J
Biochem Cell Biol. 41:482–486. 2009.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Zaichick SV, McGrath KM and Caraveo G: The
role of Ca2+ signaling in Parkinson's disease. Dis Model
Mech. 10:519–535. 2017.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Kilpatrick BS, Magalhaes J, Beavan MS,
McNeill A, Gegg ME, Cleeter MW, Bloor-Young D, Churchill GC, Duchen
MR, Schapira AH, et al: Endoplasmic reticulum and lysosomal
Ca²+ stores are remodelled in GBA1-linked Parkinson
disease patient fibroblasts. Cell Calcium. 59:12–20.
2016.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Gerke V, Creutz CE and Moss SE: Annexins:
Linking Ca2+ signalling to membrane dynamics. Nat Rev
Mol Cell Biol. 6:449–461. 2005.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Sebastiani P, Ramoni MF, Nolan V, Baldwin
CT and Steinberg MH: Genetic dissection and prognostic modeling of
overt stroke in sickle cell anemia. Nat Genet. 37:435–440.
2005.PubMed/NCBI View
Article : Google Scholar
|
|
46
|
Baldwin C, Nolan VG, Wyszynski DF, Ma QL,
Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L and
Steinberg MH: Association of klotho, bone morphogenic protein 6,
and annexin A2 polymorphisms with sickle cell osteonecrosis. Blood.
106:372–375. 2005.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Moreau K, Ghislat G, Hochfeld W, Renna M,
Zavodszky E, Runwal G, Puri C, Lee S, Siddiqi F, Menzies FM, et al:
Transcriptional regulation of Annexin A2 promotes
starvation-induced autophagy. Nat Commun. 6(8045)2015.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Nygaard SJ, Haugland HK, Kristoffersen EK,
Lund-Johansen M, Laerum OD and Tysnes OB: Expression of annexin II
in glioma cell lines and in brain tumor biopsies. J Neurooncol.
38:11–18. 1998.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Eberhard DA, Brown MD and VandenBerg SR:
Alterations of annexin expression in pathological neuronal and
glial reactions. Immunohistochemical localization of annexins I, II
(p36 and p11 subunits), IV, and VI in the human hippocampus. Am J
Pathol. 145:640–649. 1994.PubMed/NCBI
|
|
50
|
de la Monte SM, Bhavani K, Xu YY, Puisieux
A and Wands JR: Modulation of p36 gene expression in human neuronal
cells. J Neurol Sci. 128:122–133. 1995.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Réty S, Osterloh D, Arié JP, Tabaries S,
Seeman J, Russo-Marie F, Gerke V and Lewit-Bentley A: Structural
basis of the Ca(2+)-dependent association between S100C (S100A11)
and its target, the N-terminal part of annexin I. Structure.
8:175–184. 2000.PubMed/NCBI View Article : Google Scholar
|
|
52
|
Scherzer CR, Gullans SR and Jensen R:
Prediction of Parkinson's disease using gene expression levels of
peripheral blood samples. US Patent 7595159B2 2009. Filed: November
3,2005; issued: September 29, 2009.
|
|
53
|
Iridoy MO, Zubiri I, Zelaya MV, Martinez
L, Ausín K, Lachen-Montes M, Santamaría E, Fernandez-Irigoyen J and
Jericó I: Neuroanatomical Quantitative Proteomics Reveals Common
Pathogenic Biological Routes between Amyotrophic Lateral Sclerosis
(ALS) and Frontotemporal Dementia (FTD). Int J Mol Sci.
20(20)2018.PubMed/NCBI View Article : Google Scholar
|
|
54
|
Lu B, Gehrke S and Wu Z: RNA metabolism in
the pathogenesis of Parkinson's disease. Brain Res. 1584:105–115.
2014.PubMed/NCBI View Article : Google Scholar
|
|
55
|
Garcia-Esparcia P, Hernández-Ortega K,
Koneti A, Gil L, Delgado-Morales R, Castaño E, Carmona M and Ferrer
I: Altered machinery of protein synthesis is region- and
stage-dependent and is associated with α-synuclein oligomers in
Parkinson's disease. Acta Neuropathol Commun. 3(76)2015.PubMed/NCBI View Article : Google Scholar
|
|
56
|
Toker L, Tran GT, Sundaresan J, Tysnes
O-B, Alves G, Haugarvoll K, Nido GS, Dolle C and Tzoulis C:
Genome-wide dysregulation of histone acetylation in the Parkinson's
disease brain. BioRxiv: Apr 2, 2020 (Epub ahead of print). doi:
https://doi.org/10.1101/785550.
|
|
57
|
Cartelli D, Goldwurm S, Casagrande F,
Pezzoli G and Cappelletti G: Microtubule destabilization is shared
by genetic and idiopathic Parkinson's disease patient fibroblasts.
PLoS One. 7(e37467)2012.PubMed/NCBI View Article : Google Scholar
|
|
58
|
Cairns NJ, Lee VM and Trojanowski JQ: The
cytoskeleton in neurodegenerative diseases. J Pathol. 204:438–449.
2004.PubMed/NCBI View Article : Google Scholar
|
|
59
|
Tischfield MA, Baris HN, Wu C, Rudolph G,
Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL,
et al: Human TUBB3 mutations perturb microtubule dynamics, kinesin
interactions, and axon guidance. Cell. 140:74–87. 2010.PubMed/NCBI View Article : Google Scholar
|
|
60
|
Breuss M, Heng JI, Poirier K, Tian G,
Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, et al:
Mutations in the β-tubulin gene TUBB5 cause microcephaly with
structural brain abnormalities. Cell Rep. 2:1554–1562.
2012.PubMed/NCBI View Article : Google Scholar
|
|
61
|
Lewis SA, Tian G and Cowan NJ: The alpha-
and beta-tubulin folding pathways. Trends Cell Biol. 7:479–484.
1997.PubMed/NCBI View Article : Google Scholar
|
|
62
|
Ren Y, Zhao J and Feng J: Parkin binds to
alpha/beta tubulin and increases their ubiquitination and
degradation. J Neurosci. 23:3316–3324. 2003.PubMed/NCBI View Article : Google Scholar
|
|
63
|
Bonnans C, Chou J and Werb Z: Remodelling
the extracellular matrix in development and disease. Nat Rev Mol
Cell Biol. 15:786–801. 2014.PubMed/NCBI View Article : Google Scholar
|
|
64
|
Bielefeld KA, Amini-Nik S, Whetstone H,
Poon R, Youn A, Wang J and Alman BA: Fibronectin and beta-catenin
act in a regulatory loop in dermal fibroblasts to modulate
cutaneous healing. J Biol Chem. 286:27687–27697. 2011.PubMed/NCBI View Article : Google Scholar
|
|
65
|
Wang J, Yin L and Chen Z: Neuroprotective
role of fibronectin in neuron-glial extrasynaptic transmission.
Neural Regen Res. 8:376–382. 2013.PubMed/NCBI View Article : Google Scholar
|
|
66
|
Lu Z and Kipnis J: Thrombospondin 1 - a
key astrocyte-derived neurogenic factor. FASEB J. 24:1925–1934.
2010.PubMed/NCBI View Article : Google Scholar
|
|
67
|
Shuvalova LD, Eremeev AV, Bogomazova AN,
Novosadova EV, Zerkalenkova EA, Olshanskaya YV, Fedotova EY,
Glagoleva ES, Illarioshkin SN, Lebedeva OS, et al: Generation of
induced pluripotent stem cell line RCPCMi004-A derived from patient
with Parkinson's disease with deletion of the exon 2 in PARK2 gene.
Stem Cell Res (Amst). 44(101733)2020.PubMed/NCBI View Article : Google Scholar
|
|
68
|
Gustavsson N, Marote A, Pomeshchik Y, Russ
K, Azevedo C, Chumarina M, Goldwurm S, Collin A, Pinto L, Salgado
AJ, et al: Generation of an induced pluripotent stem cell line
(CSC-46) from a patient with Parkinson's disease carrying a novel
p.R301C mutation in the GBA gene. Stem Cell Res (Amst).
34(101373)2019.PubMed/NCBI View Article : Google Scholar
|
