The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg; Mauricio Ramm; Luke J. Smith; Olga Baron; Kritarth Singh; Susan C. Byrne; Michael R. Duchen; Mathias Gautel; Eeva-Liisa Eskelinen; Manolis Fanto; Heinz Jungbluth

doi:10.1080/15548627.2021.1943177

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Molecular and Integrative Biosciences Research Programme

Research output: Contribution to journal › Review Article › peer-review

Original language	English
Journal	Autophagy
Volume	18
Issue number	3
Pages (from-to)	496-517
Number of pages	22
ISSN	1554-8627
DOIs	https://doi.org/10.1080/15548627.2021.1943177
Publication status	Published - 2022
MoE publication type	A2 Review article in a scientific journal

Fields of Science

1182 Biochemistry, cell and molecular biology
autophagy
congenital disorders of autophagy
cellular trafficking
neurodegenerative disorders
neurodevelopmental disorders
CHEDIAK-HIGASHI-SYNDROME
SOD1(G93A) MOUSE MODEL
VICI SYNDROME
FRONTOTEMPORAL DEMENTIA
ALPHA-SYNUCLEIN
CENTRONUCLEAR MYOPATHY
REGULATES AUTOPHAGY
CYTOPLASMIC DYNEIN
IMPAIRS AUTOPHAGY
BRAIN-DEVELOPMENT
MICROTUBULE-ASSOCIATED PROTEIN

Access to Document

10.1080/15548627.2021.1943177Licence: CC BY

The spectrum of neurodevelopmental neuromuscular and neurodegenerative disorders due to defective autophagyFinal published version, 2.55 MBLicence: CC BY

Cite this

@article{6af7e9bdb9c3437e90b14fc08b2066cc,

title = "The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy",

keywords = "1182 Biochemistry, cell and molecular biology, autophagy, congenital disorders of autophagy, cellular trafficking, neurodegenerative disorders, neurodevelopmental disorders, CHEDIAK-HIGASHI-SYNDROME, SOD1(G93A) MOUSE MODEL, VICI SYNDROME, FRONTOTEMPORAL DEMENTIA, ALPHA-SYNUCLEIN, CENTRONUCLEAR MYOPATHY, REGULATES AUTOPHAGY, CYTOPLASMIC DYNEIN, IMPAIRS AUTOPHAGY, BRAIN-DEVELOPMENT, MICROTUBULE-ASSOCIATED PROTEIN",

author = "Celine Deneubourg and Mauricio Ramm and Smith, \{Luke J.\} and Olga Baron and Kritarth Singh and Byrne, \{Susan C.\} and Duchen, \{Michael R.\} and Mathias Gautel and Eeva-Liisa Eskelinen and Manolis Fanto and Heinz Jungbluth",

year = "2022",

doi = "10.1080/15548627.2021.1943177",

language = "English",

volume = "18",

pages = "496--517",

journal = "Autophagy",

issn = "1554-8627",

publisher = "Taylor and Francis Ltd.",

number = "3",

}

TY - JOUR

T1 - The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

AU - Deneubourg, Celine

AU - Ramm, Mauricio

AU - Smith, Luke J.

AU - Baron, Olga

AU - Singh, Kritarth

AU - Byrne, Susan C.

AU - Duchen, Michael R.

AU - Gautel, Mathias

AU - Eskelinen, Eeva-Liisa

AU - Fanto, Manolis

AU - Jungbluth, Heinz

PY - 2022

Y1 - 2022

KW - 1182 Biochemistry, cell and molecular biology

KW - autophagy

KW - congenital disorders of autophagy

KW - cellular trafficking

KW - neurodegenerative disorders

KW - neurodevelopmental disorders

KW - CHEDIAK-HIGASHI-SYNDROME

KW - SOD1(G93A) MOUSE MODEL

KW - VICI SYNDROME

KW - FRONTOTEMPORAL DEMENTIA

KW - ALPHA-SYNUCLEIN

KW - CENTRONUCLEAR MYOPATHY

KW - REGULATES AUTOPHAGY

KW - CYTOPLASMIC DYNEIN

KW - IMPAIRS AUTOPHAGY

KW - BRAIN-DEVELOPMENT

KW - MICROTUBULE-ASSOCIATED PROTEIN

U2 - 10.1080/15548627.2021.1943177

DO - 10.1080/15548627.2021.1943177

M3 - Review Article

SN - 1554-8627

VL - 18

SP - 496

EP - 517

JO - Autophagy

JF - Autophagy

IS - 3

ER -