Ghent University Academic Bibliography

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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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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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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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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
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Characterization of new transgenic mouse models for two Charcot-Marie-tooth-causing HspB1 mutations using the Rosa26 locus

Delphine Bouhy, Thomas Geuens, Vicky De Winter, Leonardo De Almeida Souza, Istvan Katona, Joachim Weis, Tino Hochepied (UGent) , Steven Goossens (UGent) , Jody Haigh, Sophie Janssens (UGent) , et al.

(2016) JOURNAL OF NEUROMUSCULAR DISEASES. 3(2). p.183-200
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Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, Antonio García, Elena Gallardo, Rosario García-Barredo, Ligia Mateiu, Jonathan Baets, Björn Menten (UGent) , Els De Vriendt, et al.

(2016) ANNALS OF NEUROLOGY. 80(6). p.823-833

Academic Bibliography

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

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

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

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

Mitochondria-associated membranes as hubs for neurodegeneration

Characterization of new transgenic mouse models for two Charcot-Marie-tooth-causing HspB1 mutations using the Rosa26 locus

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

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