Publications:

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Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.

Cell Stress & Chaperones

Benndorf, Rainer R; Velazquez, Ryan R; Zehr, Jordan D JD; Pond, Sergei L Kosakovsky SLK; Martin, Jody L JL; Lucaci, Alexander G AG

Publication Date: 2022-07

Variant appearance in text: HSPB3: 21G>T; R7S

PubMed Link: 35678958

Variant Present in the following documents:

• 12192_2022_1268_MOESM2_ESM.pdf

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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: HSPB3: R7S; rs139382018

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Humans: the ultimate animal models.

Journal Of Neurology, Neurosurgery, And Psychiatry

Reilly, Mary M MM; Rossor, Alexander M AM

Publication Date: 2020-11

Variant appearance in text: HSPB3: R7S

PubMed Link: 32769113

Variant Present in the following documents:

• Main text
• jnnp-2020-323016.pdf

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Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

International Journal Of Molecular Sciences

Sarparanta, Jaakko J; Jonson, Per Harald PH; Kawan, Sabita S; Udd, Bjarne B

Publication Date: 2020-02-19

Variant appearance in text: HSPB3: 21G>T; R7S

PubMed Link: 32093037

Variant Present in the following documents:

• Main text
• ijms-21-01409.pdf

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Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function.

Cell Reports

Morelli, Federica F FF; Verbeek, Dineke S DS; Bertacchini, Jessika J; Vinet, Jonathan J; Mediani, Laura L; Marmiroli, Sandra S; Cenacchi, Giovanna G; Nasi, Milena M; De Biasi, Sara S; Brunsting, Jeanette F JF; Lammerding, Jan J; Pegoraro, Elena E; Angelini, Corrado C; Tupler, Rossella R; Alberti, Simon S; Carra, Serena S

Publication Date: 2017-08-29

Variant appearance in text: rs139382018

PubMed Link: 28854361

Variant Present in the following documents:

• Main text
• mmc9.pdf

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Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Frontiers In Molecular Biosciences

Lupo, Vincenzo V; Aguado, Carmen C; Knecht, Erwin E; Espinós, Carmen C

Publication Date: 2016

Variant appearance in text: HSPB3: 21G>T; R7S

PubMed Link: 28018906

Variant Present in the following documents:

• Main text
• fmolb-03-00081.pdf

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Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Orphanet Journal Of Rare Diseases

Laššuthová, Petra P; Šafka Brožková, Dana D; Krůtová, Marcela M; Neupauerová, Jana J; Haberlová, Jana J; Mazanec, Radim R; Dřímal, Pavel P; Seeman, Pavel P

Publication Date: 2016-08-22

Variant appearance in text: HSPB3: 21G>T; Arg7Ser

PubMed Link: 27549087

Variant Present in the following documents:

• Main text
• 13023_2016_Article_500.pdf

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Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.

Mutation Research. Reviews In Mutation Research

Benndorf, Rainer R; Martin, Jody L JL; Kosakovsky Pond, Sergei L SL; Wertheim, Joel O JO

Publication Date: 2014

Variant appearance in text: HSPB3: 21G>T

PubMed Link: 24607769

Variant Present in the following documents:

• Main text

View BVdb publication page

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