Ghent University Academic Bibliography

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Your filters: cql: author="Timmerman, Vincent" or (type exact bookEditor and editor="Timmerman, Vincent")

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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

Barbara Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, Valeria Crippa, Riccardo Cristofani, Paola Rusmini, Veronica Ferrari, Elena Casarotto, et al.

(2023) AUTOPHAGY. 19(8). p.2217-2239
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Daniel J. Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, Steffen Abel, Hagai Abeliovich, Marie H. Abildgaard, Yakubu Princely Abudu, Abraham Acevedo-Arozena, et al.

(2021) AUTOPHAGY. 17(1). p.1-382
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Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury

Elke Ydens (UGent) , Lukas Amann, Bob Asselbergh, Charlotte Scott (UGent) , Liesbet Martens (UGent) , Dorine Sichien (UGent) , Omar Mossad, Thomas Blank, Sofie De Prijck (UGent) , Donovan Low, et al.

(2020) NATURE NEUROSCIENCE. 23. p.676-689
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Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

Michiel Krols, Bob Asselbergh, Riet De Rycke (UGent) , Vicky De Winter, Alexandre Seyer, Franz-Josef Mueller, Ingo Kurth, Geert Bultynck, Vincent Timmerman and Sophie Janssens (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(4). p.615-627
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Sensory-neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering

Michiel Krols, Sammy Detry (UGent) , Bob Asselbergh, Leonardo Almeida-Souza, Anna Kremer (UGent) , Saskia Lippens (UGent) , Riet De Rycke (UGent) , Vicky De Winter, Franz-Josef Müller, Ingo Kurth, et al.

(2018) CELL REPORTS. 23(7). p.2026-2038
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A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied (UGent) , Steven Goossens (UGent) , Jody J Haigh, Claude Libert (UGent) , et al.

(2018) ACTA NEUROPATHOLOGICA. 135(1). p.131-148
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HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis

Donna Kennedy, Katarzyna Mnich, Deepu Oommen, Reka Chakravarthy, Leonardo Almeida-Souza, Michiel Krols, Svetlana Saveljeva, Karen Doyle, Sanjeev Gupta, Vincent Timmerman, et al.

(2017) CELL DEATH & DISEASE. 8.
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Mitochondria-associated membranes as hubs for neurodegeneration

Michiel Krols, Gert Van Isterdael (UGent) , Bob Asselbergh, Anna Kremer (UGent) , Saskia Lippens (UGent) , Vincent Timmerman and Sophie Janssens (UGent)

(2016) ACTA NEUROPATHOLOGICA. 131(4). p.505-523

Academic Bibliography

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

Sensory-neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis

Mitochondria-associated membranes as hubs for neurodegeneration

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