Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: AFG3L2: Y616C; rs387906889

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.

Medicine

Liu, Xiaoyang X; Wang, Linlin L; Chen, Jiajun J; Kang, Chunyang C; Li, Jia J

Publication Date: 2021-12-17

Variant appearance in text: SCA28: 1847A>G

PubMed Link: 34918652

Variant Present in the following documents:

• Main text
• medi-100-e28008.pdf

View BVdb publication page

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Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.

Medicine

Liu, Xiaoyang X; Wang, Linlin L; Chen, Jiajun J; Kang, Chunyang C; Li, Jia J

Publication Date: 2021-12-17

Variant appearance in text: SCA28: 1847A>G

PubMed Link: 34918652

Variant Present in the following documents:

• Main text
• medi-100-e28008.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: AFG3L2: 1847A>G; Tyr616Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Expanding the clinical and genetic heterogeneity of SPAX5.

Annals Of Clinical And Translational Neurology

Dosi, Claudia C; Galatolo, Daniele D; Rubegni, Anna A; Doccini, Stefano S; Pasquariello, Rosa R; Nesti, Claudia C; Sicca, Federico F; Barghigiani, Melissa M; Battini, Roberta R; Tessa, Alessandra A; Santorelli, Filippo M FM

Publication Date: 2020-04

Variant appearance in text: AFG3L2: Tyr616Cys

PubMed Link: 32237276

Variant Present in the following documents:

• Main text
• ACN3-7-595.pdf

View BVdb publication page

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Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.

Molecular Cell

Puchades, Cristina C; Ding, Bojian B; Song, Albert A; Wiseman, R Luke RL; Lander, Gabriel C GC; Glynn, Steven E SE

Publication Date: 2019-09-05

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 31327635

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.

Journal Of Medical Genetics

Tulli, Susanna S; Del Bondio, Andrea A; Baderna, Valentina V; Mazza, Davide D; Codazzi, Franca F; Pierson, Tyler Mark TM; Ambrosi, Alessandro A; Nolte, Dagmar D; Goizet, Cyril C; Toro, Camilo C; Baets, Jonathan J; Deconinck, Tine T; DeJonghe, Peter P; Mandich, Paola P; Casari, Giorgio G; Maltecca, Francesca F

Publication Date: 2019-08

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 30910913

Variant Present in the following documents:

• Main text
• jmedgenet-2018-105766supp002.pdf
• jmedgenet-2018-105766.pdf
• jmedgenet-2018-105766supp001.pdf

View BVdb publication page

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Metalloproteases of the Inner Mitochondrial Membrane.

Biochemistry

Levytskyy, Roman M RM; Bohovych, Iryna I; Khalimonchuk, Oleh O

Publication Date: 2017-09-12

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 28806058

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitochondrial Quality Control Proteases in Neuronal Welfare.

Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology

Levytskyy, Roman M RM; Germany, Edward M EM; Khalimonchuk, Oleh O

Publication Date: 2016-12

Variant appearance in text: AFG3L2: Tyr616Cys

PubMed Link: 27137937

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SPAX5: Y616C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Frontiers In Genetics

Charif, Majida M; Roubertie, Agathe A; Salime, Sara S; Mamouni, Sonia S; Goizet, Cyril C; Hamel, Christian P CP; Lenaers, Guy G

Publication Date: 2015

Variant appearance in text: SPAX5: 1847A>G

PubMed Link: 26539208

Variant Present in the following documents:

• Main text
• fgene-06-00311.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Bmc Medical Genomics

Mancini, Cecilia C; Roncaglia, Paola P; Brussino, Alessandro A; Stevanin, Giovanni G; Lo Buono, Nicola N; Krmac, Helena H; Maltecca, Francesca F; Gazzano, Elena E; Bartoletti Stella, Anna A; Calvaruso, Maria Antonietta MA; Iommarini, Luisa L; Cagnoli, Claudia C; Forlani, Sylvie S; Le Ber, Isabelle I; Durr, Alexandra A; Brice, Alexis A; Ghigo, Dario D; Casari, Giorgio G; Porcelli, Anna Maria AM; Funaro, Ada A; Gasparre, Giuseppe G; Gustincich, Stefano S; Brusco, Alfredo A

Publication Date: 2013-06-18

Variant appearance in text: AFG3L2: Tyr616Cys

PubMed Link: 23777634

Variant Present in the following documents:

• Main text
• 1755-8794-6-22.pdf

View BVdb publication page

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AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.

The Journal Of Clinical Investigation

Almajan, Eva R ER; Richter, Ricarda R; Paeger, Lars L; Martinelli, Paola P; Barth, Esther E; Decker, Thorsten T; Larsson, Nils-Göran NG; Kloppenburg, Peter P; Langer, Thomas T; Rugarli, Elena I EI

Publication Date: 2012-11

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 23041622

Variant Present in the following documents:

• Main text

View BVdb publication page

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The use of next-generation sequencing in movement disorders.

Frontiers In Genetics

Krebs, Catharine E CE; Paisán-Ruiz, Coro C

Publication Date: 2012

Variant appearance in text: AFG3L2: Y616C

PubMed Link: 22593763

Variant Present in the following documents:

• Main text

View BVdb publication page

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The NIH Undiagnosed Diseases Program: bonding scientists and clinicians.

Disease Models & Mechanisms

Gahl, William A WA; Boerkoel, Cornelius F CF; Boehm, Manfred M

Publication Date: 2012-01

Variant appearance in text: SCA28: Y616C

PubMed Link: 22228787

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Plos Genetics

Pierson, Tyler Mark TM; Adams, David D; Bonn, Florian F; Martinelli, Paola P; Cherukuri, Praveen F PF; Teer, Jamie K JK; Hansen, Nancy F NF; Cruz, Pedro P; Mullikin For The Nisc Comparative Sequencing Program, James C JC; Blakesley, Robert W RW; Golas, Gretchen G; Kwan, Justin J; Sandler, Anthony A; Fuentes Fajardo, Karin K; Markello, Thomas T; Tifft, Cynthia C; Blackstone, Craig C; Rugarli, Elena I EI; Langer, Thomas T; Gahl, William A WA; Toro, Camilo C

Publication Date: 2011-10

Variant appearance in text: AFG3L2: 1847A>G

PubMed Link: 22022284

Variant Present in the following documents:

• Main text
• pgen.1002325.pdf

View BVdb publication page

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