Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Frédéric M Vaz; John H McDermott; Mariëlle Alders; Saskia Wortmann; Stefan Kölker; Mia L Pras-Raves; Martin A T Vervaart; Henk van Lenthe; Angela C M Luyf; Hyung L Elfrink; Kay Metcalfe; Sara Cuvertino; Peter E Clayton; Rebecca Yarwood; Martin P Lowe; Simon Lovell; Richard C Rogers; Antoine H C van Kampen; Jos P N Ruiter; Ronald J A Wanders; Sacha Ferdinandusse; Michel van Weeghel; Marc Engelen; Siddharth Banka

doi:10.1093/brain/awz291

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Frédéric M Vaz, John H McDermott, Mariëlle Alders, Saskia Wortmann (Co-author), Stefan Kölker, Mia L Pras-Raves, Martin A T Vervaart, Henk van Lenthe, Angela C M Luyf, Hyung L Elfrink, Kay Metcalfe, Sara Cuvertino, Peter E Clayton, Rebecca Yarwood, Martin P Lowe, Simon Lovell, Richard C Rogers, Antoine H C van Kampen, Jos P N Ruiter, Ronald J A WandersSacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

Department of Pediatrics

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

78 Citations (Web of Science)

Original language	English
Pages (from-to)	3382-3397
Journal	BRAIN
Volume	142
Issue number	11
DOIs	https://doi.org/10.1093/brain/awz291
Publication status	Published - 2019

Keywords

MASS-SPECTROMETRY
CTP
PLASMALOGEN
PHOSPHATIDYLETHANOLAMINE
METABOLISM
SERINE
PHOSPHATIDYLSERINE
ETHANOLAMINE
DISORDER
DEFECTS

Access to Document

10.1093/brain/awz291

Cite this

Vaz, F. M., McDermott, J. H., Alders, M., Wortmann, S., Kölker, S., Pras-Raves, M. L., Vervaart, M. A. T., van Lenthe, H., Luyf, A. C. M., Elfrink, H. L., Metcalfe, K., Cuvertino, S., Clayton, P. E., Yarwood, R., Lowe, M. P., Lovell, S., Rogers, R. C., van Kampen, A. H. C., Ruiter, J. P. N., ... Banka, S. (2019). Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. BRAIN , 142(11), 3382-3397. https://doi.org/10.1093/brain/awz291

Vaz, Frédéric M ; McDermott, John H ; Alders, Mariëlle et al. / Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. In: BRAIN 2019 ; Vol. 142, No. 11. pp. 3382-3397.

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title = "Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.",

keywords = "MASS-SPECTROMETRY, CTP, PLASMALOGEN, PHOSPHATIDYLETHANOLAMINE, METABOLISM, SERINE, PHOSPHATIDYLSERINE, ETHANOLAMINE, DISORDER, DEFECTS",

author = "Vaz, {Fr{\'e}d{\'e}ric M} and McDermott, {John H} and Mari{\"e}lle Alders and Saskia Wortmann and Stefan K{\"o}lker and Pras-Raves, {Mia L} and Vervaart, {Martin A T} and {van Lenthe}, Henk and Luyf, {Angela C M} and Elfrink, {Hyung L} and Kay Metcalfe and Sara Cuvertino and Clayton, {Peter E} and Rebecca Yarwood and Lowe, {Martin P} and Simon Lovell and Rogers, {Richard C} and {van Kampen}, {Antoine H C} and Ruiter, {Jos P N} and Wanders, {Ronald J A} and Sacha Ferdinandusse and {van Weeghel}, Michel and Marc Engelen and Siddharth Banka",

note = "Wortmann: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria",

year = "2019",

doi = "10.1093/brain/awz291",

language = "English",

volume = "142",

pages = "3382--3397",

journal = "BRAIN ",

issn = "0006-8950",

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Vaz, FM, McDermott, JH, Alders, M, Wortmann, S, Kölker, S, Pras-Raves, ML, Vervaart, MAT, van Lenthe, H, Luyf, ACM, Elfrink, HL, Metcalfe, K, Cuvertino, S, Clayton, PE, Yarwood, R, Lowe, MP, Lovell, S, Rogers, RC, van Kampen, AHC, Ruiter, JPN, Wanders, RJA, Ferdinandusse, S, van Weeghel, M, Engelen, M & Banka, S 2019, 'Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.', BRAIN , vol. 142, no. 11, pp. 3382-3397. https://doi.org/10.1093/brain/awz291

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. / Vaz, Frédéric M; McDermott, John H; Alders, Mariëlle et al.
In: BRAIN , Vol. 142, No. 11, 2019, p. 3382-3397.

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

TY - JOUR

T1 - Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

AU - Vaz, Frédéric M

AU - McDermott, John H

AU - Alders, Mariëlle

AU - Wortmann, Saskia

AU - Kölker, Stefan

AU - Pras-Raves, Mia L

AU - Vervaart, Martin A T

AU - van Lenthe, Henk

AU - Luyf, Angela C M

AU - Elfrink, Hyung L

AU - Metcalfe, Kay

AU - Cuvertino, Sara

AU - Clayton, Peter E

AU - Yarwood, Rebecca

AU - Lowe, Martin P

AU - Lovell, Simon

AU - Rogers, Richard C

AU - van Kampen, Antoine H C

AU - Ruiter, Jos P N

AU - Wanders, Ronald J A

AU - Ferdinandusse, Sacha

AU - van Weeghel, Michel

AU - Engelen, Marc

AU - Banka, Siddharth

N1 - Wortmann: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2019

Y1 - 2019

KW - MASS-SPECTROMETRY

KW - CTP

KW - PLASMALOGEN

KW - PHOSPHATIDYLETHANOLAMINE

KW - METABOLISM

KW - SERINE

KW - PHOSPHATIDYLSERINE

KW - ETHANOLAMINE

KW - DISORDER

KW - DEFECTS

U2 - 10.1093/brain/awz291

DO - 10.1093/brain/awz291

M3 - Original Article

C2 - 31637422

SN - 0006-8950

VL - 142

SP - 3382

EP - 3397

JO - BRAIN

JF - BRAIN

IS - 11

ER -

Vaz FM, McDermott JH, Alders M, Wortmann S, Kölker S, Pras-Raves ML et al. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. BRAIN . 2019;142(11):3382-3397. doi: 10.1093/brain/awz291