Publications:

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The Y831C Mutation of the POLG Gene in Dementia.

Biomedicines

Borgione, Eugenia E; Lo Giudice, Mariangela M; Santa Paola, Sandro S; Giuliano, Marika M; Lanza, Giuseppe G; Cantone, Mariagiovanna M; Ferri, Raffaele R; Scuderi, Carmela C

Publication Date: 2023-04-13

Variant appearance in text: POLG: R964C

PubMed Link: 37189790

Variant Present in the following documents:

• biomedicines-11-01172.pdf

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Outlook of PINK1/Parkin signaling in molecular etiology of Parkinson's disease, with insights into Pink1 knockout models.

Zoological Research

Wang, Zhangting Z; Chan, See-Wing SW; Zhao, Hui H; Miu, Kai-Kei KK; Chan, Wai-Yee WY

Publication Date: 2023-05-18

Variant appearance in text: POLG: R964C

PubMed Link: 37161651

Variant Present in the following documents:

• zr-44-3-559.pdf

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: POLG: 2890C>T; Arg964Cys

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Scientific Reports

Wu, Teng-Hui TH; Peng, Jing J; Yang, Li L; Chen, Yan-Hui YH; Lu, Xiu-Lan XL; Huang, Jiao-Tian JT; You, Jie-Yu JY; Ou-Yang, Wen-Xian WX; Sun, Yue-Yu YY; Xue, Yi-Nan YN; Mao, Xiao X; Yan, Hui-Ming HM; Ren, Rong-Na RN; Xie, Jing J; Chen, Zhi-Heng ZH; Zhang, Victor-Wei VW; Lyu, Gui-Zhen GZ; He, Fang F

Publication Date: 2023-03-14

Variant appearance in text: POLG: 2890C>T; R964C

PubMed Link: 36918699

Variant Present in the following documents:

• Main text
• 41598_2023_Article_31134.pdf

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: POLG: R964C; rs201477273

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 12

View BVdb publication page

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Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Frontiers In Molecular Neuroscience

Wang, Liang L; Yang, Ziyun Z; He, Xiumei X; Pu, Shiming S; Yang, Cheng C; Wu, Qiong Q; Zhou, Zuping Z; Cen, Xiaobo X; Zhao, Hongxia H

Publication Date: 2022

Variant appearance in text: POLG: Arg964Cys

PubMed Link: 36157077

Variant Present in the following documents:

• Main text
• fnmol-15-974480.pdf

View BVdb publication page

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Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Annals Of Translational Medicine

Yuan, Wei-Zhuang WZ; Shang, Liang L; Tian, Dai-Shi DS; Wu, Shi-Wen SW; You, Yong Y; Tian, Cheng-Lin CL; Wu, Bo B; Liu, Jun J; Sun, Qin-Jian QJ; Liu, Qing Q; Xu, Wei-Hai WH

Publication Date: 2022-05

Variant appearance in text: rs201477273

PubMed Link: 35928749

Variant Present in the following documents:

• atm-10-09-512-supplementary.pdf

View BVdb publication page

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Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Bmc Medical Genomics

Miao, Mingzhu M; Lu, Shoulian S; Sun, Xiao X; Zhao, Meng M; Wang, Jue J; Su, Xiaotan X; Jin, Bai B; Sun, Lizhou L

Publication Date: 2022-07-13

Variant appearance in text: POLG: 2890C>T; rs201477273

PubMed Link: 35831859

Variant Present in the following documents:

• 12920_2022_1311_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.

The Journal Of Biological Chemistry

Rahman, Md Mostafijur MM; Young, Carolyn K J CKJ; Goffart, Steffi S; Pohjoismäki, Jaakko L O JLO; Young, Matthew J MJ

Publication Date: 2022-08

Variant appearance in text: POLG: R964C

PubMed Link: 35760101

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Npj Genomic Medicine

Chau, Jeffrey Fong Ting JFT; Yu, Mullin Ho Chung MHC; Chui, Martin Man Chun MMC; Yeung, Cyrus Chun Wing CCW; Kwok, Aaron Wing Cheung AWC; Zhuang, Xuehan X; Lee, Ryan R; Fung, Jasmine Lee Fong JLF; Lee, Mianne M; Mak, Christopher Chun Yu CCY; Ng, Nicole Ying Ting NYT; Chung, Claudia Ching Yan CCY; Chan, Marcus Chun Yin MCY; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Chan, Kelvin Yuen Kwong KYK; Kan, Anita Sik Yau ASY; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Yeung, Kit San KS; Chung, Brian Hon Yin BHY; Tang, Clara Sze Man CSM

Publication Date: 2022-03-21

Variant appearance in text: POLG: 2890C>T; Arg964Cys; rs201477273

PubMed Link: 35314707

Variant Present in the following documents:

• Main text
• 41525_2022_Article_287.pdf
• 41525_2022_287_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.

Journal Of Ophthalmology

Chen, Binbin B; Yu, Xiaoning X; Zhang, Xin X; Yang, Hao H; Cui, Yilei Y; Shentu, Xingchao X

Publication Date: 2022

Variant appearance in text: POLG: 2890C>T; rs201477273

PubMed Link: 35186329

Variant Present in the following documents:

• joph2022-9991910.pdf

View BVdb publication page

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Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.

Frontiers In Pharmacology

Li, Hua H; Wang, Wei W; Han, Xiaodi X; Zhang, Yujia Y; Dai, Lifang L; Xu, Manting M; Deng, Jie J; Ding, Changhong C; Wang, Xiaohui X; Chen, Chunhong C; Yang, Xiaofeng X; Fang, Fang F

Publication Date: 2021

Variant appearance in text: POLG: 2890C>T

PubMed Link: 34690748

Variant Present in the following documents:

• Main text
• fphar-12-669516.pdf

View BVdb publication page

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Mitochondrial and Organellar Crosstalk in Parkinson's Disease.

Asn Neuro

Ray, Bipul B; Bhat, Abid A; Mahalakshmi, Arehally Marappa AM; Tuladhar, Sunanda S; Bishir, Muhammed M; Mohan, Surapaneni Krishna SK; Veeraraghavan, Vishnu Priya VP; Chandra, Ramesh R; Essa, Musthafa Mohamed MM; Chidambaram, Saravana Babu SB; Sakharkar, Meena Kishore MK

Publication Date: 2021

Variant appearance in text: POLG: R964C

PubMed Link: 34304614

Variant Present in the following documents:

• 10.1177_17590914211028364.pdf

View BVdb publication page

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A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?

Journal Of Clinical And Translational Research

Idiculla, Pretty Sara PS; Hussain, Syed Taimour ST; Siddiqui, Junaid Habib JH

Publication Date: 2021-06-26

Variant appearance in text: POLG: R964C

PubMed Link: 34179544

Variant Present in the following documents:

• Main text
• jclintranslres-2021-7-3-297.pdf

View BVdb publication page

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Parkinson-related neuropathy.

Clinics (Sao Paulo, Brazil)

Finsterer, Josef J; Scorza, Fúlvio Alexandre FA; Scorza, Carla Alessandra CA; Fiorini, Ana Claudia AC

Publication Date: 2021-02-05

Variant appearance in text: POLG: R964C

PubMed Link: 33567051

Variant Present in the following documents:

• cln-76-2675.pdf

View BVdb publication page

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Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.

International Journal Of Neonatal Screening

Sriwattanapong, Kanokwan K; Rojnueangnit, Kitiwan K; Theerapanon, Thanakorn T; Srichomthong, Chalurmpon C; Porntaveetus, Thantrira T; Shotelersuk, Vorasuk V

Publication Date: 2021-02-05

Variant appearance in text: POLG: 2890C>T; Arg964Cys

PubMed Link: 33562887

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: POLG: R964C; rs201477273

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

View BVdb publication page

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The antiretroviral 2',3'-dideoxycytidine causes mitochondrial dysfunction in proliferating and differentiated HepaRG human cell cultures.

The Journal Of Biological Chemistry

Young, Carolyn K J CKJ; Wheeler, Joel H JH; Rahman, Md Mostafijur MM; Young, Matthew J MJ

Publication Date: 2021

Variant appearance in text: POLG: R964C

PubMed Link: 33334881

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Characterization of a pathogenic variant in GBA for Parkinson's disease with mild cognitive impairment patients.

Molecular Brain

Jiang, Zhiqiang Z; Huang, Yilin Y; Zhang, Piao P; Han, Chongyin C; Lu, Yueer Y; Mo, Zongchao Z; Zhang, Zhanyu Z; Li, Xin X; Zhao, Sisi S; Cai, Fuqiang F; Huang, Lizhen L; Chen, Chunbo C; Shi, Zhihong Z; Zhang, Yuhu Y; Ling, Fei F

Publication Date: 2020-07-08

Variant appearance in text: POLG: R964C

PubMed Link: 32641146

Variant Present in the following documents:

• 13041_2020_Article_637.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: POLG: 2890C>T; Arg964Cys; rs201477273

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: POLG: 2890C>T; Arg964Cys; rs201477273

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

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Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Molecular Vision

Surl, Dongheon D; Shin, Saeam S; Lee, Seung-Tae ST; Choi, Jong Rak JR; Lee, Junwon J; Byeon, Suk Ho SH; Han, Sueng-Han SH; Lim, Hyun Taek HT; Han, Jinu J

Publication Date: 2020

Variant appearance in text: POLG: 2890C>T; Arg964Cys

PubMed Link: 32165824

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: POLG: 2890C>T; R964C

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

View BVdb publication page

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: POLG: 2890C>T

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: POLG: 2890C>T; Arg964Cys; rs201477273

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: POLG: 2890C>T; Arg964Cys

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

Endocrinology

Tiosano, Dov D; Mears, Jason A JA; Buchner, David A DA

Publication Date: 2019-10-01

Variant appearance in text: POLG: R964C

PubMed Link: 31393557

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: POLG: R964C

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 21

View BVdb publication page

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Networked Communication between Polymerase and Exonuclease Active Sites in Human Mitochondrial DNA Polymerase.

Journal Of The American Chemical Society

Sowers, Mark L ML; Anderson, Andrew P P APP; Wrabl, James O JO; Yin, Y Whitney YW

Publication Date: 2019-07-10

Variant appearance in text: POLG: R964C

PubMed Link: 31251605

Variant Present in the following documents:

• Main text

View BVdb publication page

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POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Brain And Behavior

Hsieh, Pei-Chen PC; Wang, Chun-Chieh CC; Tsai, Chia-Lung CL; Yeh, Yuan-Ming YM; Lee, Yun Shien YS; Wu, Yih-Ru YR

Publication Date: 2019-05

Variant appearance in text: POLG: R964C

PubMed Link: 30941926

Variant Present in the following documents:

• Main text
• BRB3-9-e01281.pdf

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: POLG: 2890C>T; R964C; rs201477273

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 3

View BVdb publication page

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[Etiology and clinical features of epilepsia partialis continua: an analysis of six cases].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Zhang, Mu M; Tang, Zhen-Li ZL; Wu, Li-Wen LW; Yang, Li L; Wang, Xiao-Le XL; Yin, Fei F; Peng, Jing J; Chen, Chen C

Publication Date: 2018-12

Variant appearance in text: POLG: 2890C>T; R964C

PubMed Link: 30572989

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: POLG: R964C; rs201477273

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs201477273

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Off-Target Effects of Drugs that Disrupt Human Mitochondrial DNA Maintenance.

Frontiers In Molecular Biosciences

Young, Matthew J MJ

Publication Date: 2017

Variant appearance in text: POLG: R964C

PubMed Link: 29214156

Variant Present in the following documents:

• Main text
• fmolb-04-00074.pdf

View BVdb publication page

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Inherited mitochondrial genomic instability and chemical exposures.

Toxicology

Chan, Sherine S L SSL

Publication Date: 2017-11-01

Variant appearance in text: POLG: R964C

PubMed Link: 28756246

Variant Present in the following documents:

• Main text

View BVdb publication page

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The DNA Polymerase Gamma R953C Mutant Is Associated with Antiretroviral Therapy-Induced Mitochondrial Toxicity.

Antimicrobial Agents And Chemotherapy

Li, Min M; Mislak, Andrea C AC; Foli, Yram Y; Agbosu, Esinam E; Bose, Vivek V; Bhandari, Shreya S; Szymanski, Michal R MR; Shumate, Christie K CK; Yin, Y Whitney YW; Anderson, Karen S KS; Paintsil, Elijah E

Publication Date: 2016-09

Variant appearance in text: POLG: R964C

PubMed Link: 27381400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: POLG: R964C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Mitochondrion

Baruffini, Enrico E; Ferrari, Jessica J; Dallabona, Cristina C; Donnini, Claudia C; Lodi, Tiziana T

Publication Date: 2015-01

Variant appearance in text: POLG: R964C

PubMed Link: 25462018

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular features of POLG-related mitochondrial disease.

Cold Spring Harbor Perspectives In Biology

Stumpf, Jeffrey D JD; Saneto, Russell P RP; Copeland, William C WC

Publication Date: 2013-04-01

Variant appearance in text: POLG: R964C

PubMed Link: 23545419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alpers-Huttenlocher syndrome.

Pediatric Neurology

Saneto, Russell P RP; Cohen, Bruce H BH; Copeland, William C WC; Naviaux, Robert K RK

Publication Date: 2013-03

Variant appearance in text: POLG1: R964C

PubMed Link: 23419467

Variant Present in the following documents:

• Main text

View BVdb publication page

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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Brain : A Journal Of Neurology

Neeve, Vivienne C M VC; Samuels, David C DC; Bindoff, Laurence A LA; van den Bosch, Bianca B; Van Goethem, Gert G; Smeets, Hubert H; Lombès, Anne A; Jardel, Claude C; Hirano, Michio M; Dimauro, Salvatore S; De Vries, Maaike M; Smeitink, Jan J; Smits, Bart W BW; de Coo, Ireneus F M IF; Saft, Carsten C; Klopstock, Thomas T; Keiling, Bianca-Cortina BC; Czermin, Birgit B; Abicht, Angela A; Lochmüller, Hanns H; Hudson, Gavin G; Gorman, Grainne G GG; Turnbull, Doug M DM; Taylor, Robert W RW; Holinski-Feder, Elke E; Chinnery, Patrick F PF; Horvath, Rita R

Publication Date: 2012-12

Variant appearance in text: POLG: Arg964Cys

PubMed Link: 23250882

Variant Present in the following documents:

• Main text
• aws298.pdf

View BVdb publication page

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Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.

Methods (San Diego, Calif.)

Kasiviswanathan, Rajesh R; Longley, Matthew J MJ; Young, Matthew J MJ; Copeland, William C WC

Publication Date: 2010-08

Variant appearance in text: POLG: R964C

PubMed Link: 20176107

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Biochimica Et Biophysica Acta

Chan, Sherine S L SS; Copeland, William C WC

Publication Date: 2009-05

Variant appearance in text: POLG: R964C

PubMed Link: 19010300

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Human Mutation

Wong, Lee-Jun C LJ; Naviaux, Robert K RK; Brunetti-Pierri, Nicola N; Zhang, Qing Q; Schmitt, Eric S ES; Truong, Cavatina C; Milone, Margherita M; Cohen, Bruce H BH; Wical, Beverly B; Ganesh, Jaya J; Basinger, Alice A AA; Burton, Barbara K BK; Swoboda, Kathryn K; Gilbert, Donald L DL; Vanderver, Adeline A; Saneto, Russell P RP; Maranda, Bruno B; Arnold, Georgianne G; Abdenur, Jose E JE; Waters, Paula J PJ; Copeland, William C WC

Publication Date: 2008-09

Variant appearance in text: POLG: R964C

PubMed Link: 18546365

Variant Present in the following documents:

• Main text

View BVdb publication page

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