Publications:

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Autophagy Dysfunction in ALS: from Transport to Protein Degradation.

Journal Of Molecular Neuroscience : Mn

Cozzi, Marta M; Ferrari, Veronica V

Publication Date: 2022-07

Variant appearance in text: PC: D477N

PubMed Link: 35708843

Variant Present in the following documents:

• 12031_2022_Article_2029.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: PC: 1429G>A; Asp477Asn

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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Optineurin Functions for Optimal Immunity.

Frontiers In Immunology

Slowicka, Karolina K; van Loo, Geert G

Publication Date: 2018

Variant appearance in text: PC: D477N

PubMed Link: 29692786

Variant Present in the following documents:

• fimmu-09-00769.pdf

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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: PC: D477N

PubMed Link: 28255281

Variant Present in the following documents:

• 12018_2016_Article_9226.pdf

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Optineurin regulates the interferon response in a cell cycle-dependent manner.

Plos Pathogens

Génin, Pierre P; Cuvelier, Frédérique F; Lambin, Sandrine S; Côrte-Real Filipe, Josina J; Autrusseau, Elodie E; Laurent, Christine C; Laplantine, Emmanuel E; Weil, Robert R

Publication Date: 2015-04

Variant appearance in text: PC: D477N

PubMed Link: 25923723

Variant Present in the following documents:

• ppat.1004877.pdf

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Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Plos One

Duarri, Anna A; Nibbeling, Esther A R EA; Fokkens, Michiel R MR; Meijer, Michel M; Boerrigter, Melissa M; Verschuuren-Bemelmans, Corien C CC; Kremer, Berry P H BP; van de Warrenburg, Bart P BP; Dooijes, Dennis D; Boddeke, Erik E; Sinke, Richard J RJ; Verbeek, Dineke S DS

Publication Date: 2015

Variant appearance in text: PC: 1429G>A; D477N

PubMed Link: 25756792

Variant Present in the following documents:

• Main text

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