Publications:

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Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.

Annals Of Clinical And Translational Neurology

Chompoopong, Pitcha P; Oskarsson, Björn B; Madigan, Nicolas N NN; Mirman, Igal I; Martinez-Thompson, Jennifer M JM; Liewluck, Teerin T; Milone, Margherita M

Publication Date: 2023-03-01

Variant appearance in text: SQSTM1: Pro387Leu

PubMed Link: 36861178

Variant Present in the following documents:

• Main text
• ACN3-10-632.pdf

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Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Frontiers In Aging Neuroscience

Rossi, Giacomina G; Salvi, Erika E; Mehmeti, Elkadia E; Ricci, Martina M; Villa, Cristina C; Prioni, Sara S; Moda, Fabio F; Di Fede, Giuseppe G; Tiraboschi, Pietro P; Redaelli, Veronica V; Coppola, Cinzia C; Koch, Giacomo G; Canu, Elisa E; Filippi, Massimo M; Agosta, Federica F; Giaccone, Giorgio G; Caroppo, Paola P

Publication Date: 2022

Variant appearance in text: SQSTM1: P387L

PubMed Link: 36570531

Variant Present in the following documents:

• Main text
• fnagi-14-1085406.pdf

View BVdb publication page

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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: SQSTM1: P387L; rs776749939

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 6
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Neurology. Genetics

Nel, Melissa M; Mahungu, Amokelani C AC; Monnakgotla, Nomakhosazana N; Botha, Gerrit R GR; Mulder, Nicola J NJ; Wu, Gang G; Rampersaud, Evadnie E; van Blitterswijk, Marka M; Wuu, Joanne J; Cooley, Anne A; Myers, Jason J; Rademakers, Rosa R; Taylor, J Paul JP; Benatar, Michael M; Heckmann, Jeannine M JM

Publication Date: 2022-02

Variant appearance in text: SQSTM1: P387L

PubMed Link: 35047667

Variant Present in the following documents:

• Main text
• NG2021017234.pdf

View BVdb publication page

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Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.

International Journal Of Molecular Sciences

Tamargo-Gómez, Isaac I; Fernández, Álvaro F ÁF; Mariño, Guillermo G

Publication Date: 2020-11-02

Variant appearance in text: rs776749939

PubMed Link: 33147747

Variant Present in the following documents:

• Main text
• ijms-21-08196.pdf

View BVdb publication page

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Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.

Calcified Tissue International

Donáth, Judit J; Balla, Bernadett B; Pálinkás, Márton M; Rásonyi, Rita R; Vastag, Gyula G; Alonso, Nerea N; Prieto, Beatriz Larraz BL; Vallet, Mahéva M; Ralston, Stuart H SH; Poór, Gyula G

Publication Date: 2021-02

Variant appearance in text: SQSTM1: Pro387Leu; rs776749939

PubMed Link: 32978683

Variant Present in the following documents:

• Main text
• 223_2020_Article_758.pdf

View BVdb publication page

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The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Neural Regeneration Research

Foster, Adriana Delice AD; Rea, Sarah Lyn SL

Publication Date: 2020-12

Variant appearance in text: SQSTM1: 1160C>T; P387L

PubMed Link: 32594029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis.

Neurology. Genetics

Pytte, Julia J; Anderton, Ryan S RS; Flynn, Loren L LL; Theunissen, Frances F; Jiang, Leanne L; Pitout, Ianthe I; James, Ian I; Mastaglia, Frank L FL; Saunders, Ann M AM; Bedlack, Richard R; Siddique, Teepu T; Siddique, Nailah N; Akkari, P Anthony PA

Publication Date: 2020-04

Variant appearance in text: rs776749939

PubMed Link: 32185242

Variant Present in the following documents:

• Main text
• NG2019011502.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SQSTM1: 1160C>T; Pro387Leu; rs776749939

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Molecular insights into an ancient form of Paget's disease of bone.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Shaw, Barry B; Burrell, Carla L CL; Green, Darrell D; Navarro-Martinez, Ana A; Scott, Daniel D; Daroszewska, Anna A; van 't Hof, Rob R; Smith, Lynn L; Hargrave, Frank F; Mistry, Sharad S; Bottrill, Andrew A; Kessler, Benedikt M BM; Fischer, Roman R; Singh, Archana A; Dalmay, Tamas T; Fraser, William D WD; Henneberger, Kirstin K; King, Turi T; Gonzalez, Silvia S; Layfield, Robert R

Publication Date: 2019-05-21

Variant appearance in text: SQSTM1: P387L

PubMed Link: 31036632

Variant Present in the following documents:

• Main text
• pnas.201820556.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SQSTM1: P387L

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: PDB3: P387L

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Clinical Reviews In Bone And Mineral Metabolism

Alonso, N N; Calero-Paniagua, I I; Del Pino-Montes, J J

Publication Date: 2017

Variant appearance in text: SQSTM1: P387L

PubMed Link: 28255281

Variant Present in the following documents:

• Main text
• 12018_2016_Article_9226.pdf

View BVdb publication page

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Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications

Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW

Publication Date: 2017-01-18

Variant appearance in text: SQSTM1: P387L

PubMed Link: 28098136

Variant Present in the following documents:

• ncomms14121-s5.xlsx, sheet 1

View BVdb publication page

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Paget's disease population analysis within Rheumatology Outpatient of the ASL of Biella (Piedmont Region, Italy).

Clinical Cases In Mineral And Bone Metabolism : The Official Journal Of The Italian Society Of Osteoporosis, Mineral Metabolism, And Skeletal Diseases

Longato, Lorena L

Publication Date: 2014-01

Variant appearance in text: SQSTM1: P387L

PubMed Link: 25002880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Acta Neuropathologica

van der Zee, Julie J; Van Langenhove, Tim T; Kovacs, Gabor G GG; Dillen, Lubina L; Deschamps, William W; Engelborghs, Sebastiaan S; Matěj, Radoslav R; Vandenbulcke, Mathieu M; Sieben, Anne A; Dermaut, Bart B; Smets, Katrien K; Van Damme, Philip P; Merlin, Céline C; Laureys, Annelies A; Van Den Broeck, Marleen M; Mattheijssens, Maria M; Peeters, Karin K; Benussi, Luisa L; Binetti, Giuliano G; Ghidoni, Roberta R; Borroni, Barbara B; Padovani, Alessandro A; Archetti, Silvana S; Pastor, Pau P; Razquin, Cristina C; Ortega-Cubero, Sara S; Hernández, Isabel I; Boada, Mercè M; Ruiz, Agustín A; de Mendonça, Alexandre A; Miltenberger-Miltényi, Gabriel G; do Couto, Frederico Simões FS; Sorbi, Sandro S; Nacmias, Benedetta B; Bagnoli, Silvia S; Graff, Caroline C; Chiang, Huei-Hsin HH; Thonberg, Håkan H; Perneczky, Robert R; Diehl-Schmid, Janine J; Alexopoulos, Panagiotis P; Frisoni, Giovanni B GB; Bonvicini, Christian C; Synofzik, Matthis M; Maetzler, Walter W; vom Hagen, Jennifer Müller JM; Schöls, Ludger L; Haack, Tobias B TB; Strom, Tim M TM; Prokisch, Holger H; Dols-Icardo, Oriol O; Clarimón, Jordi J; Lleó, Alberto A; Santana, Isabel I; Almeida, Maria Rosário MR; Santiago, Beatriz B; Heneka, Michael T MT; Jessen, Frank F; Ramirez, Alfredo A; Sanchez-Valle, Raquel R; Llado, Albert A; Gelpi, Ellen E; Sarafov, Stayko S; Tournev, Ivailo I; Jordanova, Albena A; Parobkova, Eva E; Fabrizi, Gian Maria GM; Testi, Silvia S; Salmon, Eric E; Ströbel, Thomas T; Santens, Patrick P; Robberecht, Wim W; De Jonghe, Peter P; Martin, Jean-Jacques JJ; Cras, Patrick P; Vandenberghe, Rik R; De Deyn, Peter Paul PP; Cruts, Marc M; Sleegers, Kristel K; Van Broeckhoven, Christine C

Publication Date: 2014-09

Variant appearance in text: SQSTM1: Pro387Leu

PubMed Link: 24899140

Variant Present in the following documents:

• Main text
• 401_2014_Article_1298.pdf

View BVdb publication page

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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Jama Neurology

Le Ber, Isabelle I; Camuzat, Agnès A; Guerreiro, Rita R; Bouya-Ahmed, Kawtar K; Bras, Jose J; Nicolas, Gael G; Gabelle, Audrey A; Didic, Mira M; De Septenville, Anne A; Millecamps, Stéphanie S; Lenglet, Timothée T; Latouche, Morwena M; Kabashi, Edor E; Campion, Dominique D; Hannequin, Didier D; Hardy, John J; Brice, Alexis A; ,

Publication Date: 2013-11

Variant appearance in text: SQSTM1: 1160C>T; P387L

PubMed Link: 24042580

Variant Present in the following documents:

• Main text

View BVdb publication page

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SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Neurology

Rubino, Elisa E; Rainero, Innocenzo I; Chiò, Adriano A; Rogaeva, Ekaterina E; Galimberti, Daniela D; Fenoglio, Pierpaola P; Grinberg, Yakov Y; Isaia, Giancarlo G; Calvo, Andrea A; Gentile, Salvatore S; Bruni, Amalia Cecilia AC; St George-Hyslop, Peter Henry PH; Scarpini, Elio E; Gallone, Salvatore S; Pinessi, Lorenzo L; ,

Publication Date: 2012-10-09

Variant appearance in text: SQSTM1: P387L

PubMed Link: 22972638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: SQSTM1: P387L

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

View BVdb publication page

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Ubiquitin-mediated signalling and Paget's disease of bone.

Bmc Biochemistry

Layfield, Robert R; Shaw, Barry B

Publication Date: 2007-11-22

Variant appearance in text: SQSTM1: P387L

PubMed Link: 18047742

Variant Present in the following documents:

• Main text
• 1471-2091-8-S1-S5.pdf

View BVdb publication page

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