PKAN pathogenesis and treatment

Susan J. Hayflick; Suh Young Jeong; Ody C.M. Sibon

doi:10.1016/j.ymgme.2022.09.011

PKAN pathogenesis and treatment

Susan J. Hayflick^*, Suh Young Jeong, Ody C.M. Sibon

^*Corresponding author voor dit werk

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7 Citaten (Scopus)

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Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.

Originele taal-2	English
Pagina's (van-tot)	283-291
Aantal pagina's	9
Tijdschrift	Molecular Genetics and Metabolism
Volume	137
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1016/j.ymgme.2022.09.011
Status	Published - nov.-2022

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PKAN pathogenesis and treatmentFinal publisher's version, 1,18 MBLicentie: Taverne

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@article{355c5228a51a4044833a84496a30f15f,

title = "PKAN pathogenesis and treatment",

abstract = "Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.",

keywords = "Brain iron, Coenzyme A, Mitochondrial acyl carrier protein, Pantothenate kinase, Phosphopantetheinylation, PKAN",

author = "Hayflick, {Susan J.} and Jeong, {Suh Young} and Sibon, {Ody C.M.}",

note = "Funding Information: This work was supported by the National Institutes of Health grant numbers R21 HD088833 and R01 NS109083 . Publisher Copyright: {\textcopyright} 2022 Elsevier Inc.",

year = "2022",

month = nov,

doi = "10.1016/j.ymgme.2022.09.011",

language = "English",

volume = "137",

pages = "283--291",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "ACADEMIC PRESS INC ELSEVIER SCIENCE",

number = "3",

}

TY - JOUR

T1 - PKAN pathogenesis and treatment

AU - Hayflick, Susan J.

AU - Jeong, Suh Young

AU - Sibon, Ody C.M.

PY - 2022/11

Y1 - 2022/11

N2 - Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.

AB - Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.

KW - Brain iron

KW - Coenzyme A

KW - Mitochondrial acyl carrier protein

KW - Pantothenate kinase

KW - Phosphopantetheinylation

KW - PKAN

U2 - 10.1016/j.ymgme.2022.09.011

DO - 10.1016/j.ymgme.2022.09.011

M3 - Review article

AN - SCOPUS:85139731669

SN - 1096-7192

VL - 137

SP - 283

EP - 291

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

PKAN pathogenesis and treatment

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