Publications:

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Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.

Biomolecules

Camponeschi, Francesca F; Ciofi-Baffoni, Simone S; Calderone, Vito V; Banci, Lucia L

Publication Date: 2022-07-21

Variant appearance in text: IND1: Asp105Tyr

PubMed Link: 35883565

Variant Present in the following documents:

• Main text

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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: NUBPL: D105Y; rs397515440

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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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

European Journal Of Neurology

Balint, B B; Charlesworth, G G; Stamelou, M M; Carr, L L; Mencacci, N E NE; Wood, N W NW; Bhatia, K P KP

Publication Date: 2019-09

Variant appearance in text: NUBPL: D105Y

PubMed Link: 30897263

Variant Present in the following documents:

• Main text
• ENE-26-1240.pdf

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Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Human Molecular Genetics

Maclean, Andrew E AE; Kimonis, Virginia E VE; Balk, Janneke J

Publication Date: 2018-11-01

Variant appearance in text: NUBPL: 313G>T

PubMed Link: 29982452

Variant Present in the following documents:

• Main text
• ddy247.pdf

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: NUBPL: 313G>T; Asp105Tyr

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.

Frontiers In Molecular Biosciences

Giachin, Gabriele G; Bouverot, Romain R; Acajjaoui, Samira S; Pantalone, Serena S; Soler-López, Montserrat M

Publication Date: 2016

Variant appearance in text: NUBPL: D105Y

PubMed Link: 27597947

Variant Present in the following documents:

• Main text
• fmolb-03-00043.pdf

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Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.

Biochimica Et Biophysica Acta

Maio, Nunziata N; Rouault, Tracey A TA

Publication Date: 2015-06

Variant appearance in text: NUBPL: D105Y

PubMed Link: 25245479

Variant Present in the following documents:

• Main text

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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

Neurology

Kevelam, Sietske H SH; Rodenburg, Richard J RJ; Wolf, Nicole I NI; Ferreira, Patrick P; Lunsing, Roelineke J RJ; Nijtmans, Leo G LG; Mitchell, Anne A; Arroyo, Hugo A HA; Rating, Dietz D; Vanderver, Adeline A; van Berkel, Carola G M CG; Abbink, Truus E M TE; Heutink, Peter P; van der Knaap, Marjo S MS

Publication Date: 2013-04-23

Variant appearance in text: NUBPL: 313G>T; Asp105Tyr

PubMed Link: 23553477

Variant Present in the following documents:

• Main text

View BVdb publication page

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