Therapeutics development for pantothenate kinase-associated neurodegeneration (PKAN)

Susan Hayflick

Therapeutics development for pantothenate kinase-associated neurodegeneration (PKAN)

Susan Hayflick

Research output: Thesis › Thesis fully internal (DIV)

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Abstract

Therapeutics Development for
Pantothenate Kinase-Associated Neurodegeneration

Lay summary

For more than two decades, research has been underway to understand the biology of and develop treatments for PKAN, an ultra-rare genetic disease affecting children and adults. People with PKAN suffer from painful muscle spasms, stiffness, trouble controlling their movements, and blindness. The cause of PKAN is a mis-spelled gene that normally enables the body to use vitamin B5 to build other essential chemicals. Without a properly spelled gene, people with PKAN are unable to make those chemicals to preserve brain and eye health. Our work presented in this thesis has been focused on improving understanding of PKAN and the chemical pathways affected in this progressive disorder. We use that understanding to inspire new ideas to combat this chemical problem and potentially develop a treatment. Our work was provided hope for a way to bypass the PKAN problem, and we are currently focused on testing this idea in people with the disease.

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Groningen
Supervisors/Advisors	Sibon, Ody, Supervisor Reijngoud, Dirk Jan, Supervisor
Award date	17-Oct-2022
Place of Publication	[Groningen]
Publisher	University of Groningen
Publication status	Published - 2022

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Title and contentsFinal publisher's version, 262 KB
Chapter 2Final publisher's version, 2.34 MB
Chapter 3Final publisher's version, 11 MB
Chapter 4Final publisher's version, 35.8 MB
Chapter 5Final publisher's version, 6.8 MB
AppendicesFinal publisher's version, 222 KB
PropositionsFinal publisher's version, 19.6 KB

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Cite this

@phdthesis{f5c1657d59384400ab2433b765b8da5e,

title = "Therapeutics development for pantothenate kinase-associated neurodegeneration (PKAN)",

abstract = "Therapeutics Development for Pantothenate Kinase-Associated NeurodegenerationLay summaryFor more than two decades, research has been underway to understand the biology of and develop treatments for PKAN, an ultra-rare genetic disease affecting children and adults. People with PKAN suffer from painful muscle spasms, stiffness, trouble controlling their movements, and blindness. The cause of PKAN is a mis-spelled gene that normally enables the body to use vitamin B5 to build other essential chemicals. Without a properly spelled gene, people with PKAN are unable to make those chemicals to preserve brain and eye health. Our work presented in this thesis has been focused on improving understanding of PKAN and the chemical pathways affected in this progressive disorder. We use that understanding to inspire new ideas to combat this chemical problem and potentially develop a treatment. Our work was provided hope for a way to bypass the PKAN problem, and we are currently focused on testing this idea in people with the disease.",

author = "Susan Hayflick",

year = "2022",

language = "English",

publisher = "University of Groningen",

school = "University of Groningen",

}

TY - THES

T1 - Therapeutics development for pantothenate kinase-associated neurodegeneration (PKAN)

AU - Hayflick, Susan

PY - 2022

Y1 - 2022

N2 - Therapeutics Development for Pantothenate Kinase-Associated NeurodegenerationLay summaryFor more than two decades, research has been underway to understand the biology of and develop treatments for PKAN, an ultra-rare genetic disease affecting children and adults. People with PKAN suffer from painful muscle spasms, stiffness, trouble controlling their movements, and blindness. The cause of PKAN is a mis-spelled gene that normally enables the body to use vitamin B5 to build other essential chemicals. Without a properly spelled gene, people with PKAN are unable to make those chemicals to preserve brain and eye health. Our work presented in this thesis has been focused on improving understanding of PKAN and the chemical pathways affected in this progressive disorder. We use that understanding to inspire new ideas to combat this chemical problem and potentially develop a treatment. Our work was provided hope for a way to bypass the PKAN problem, and we are currently focused on testing this idea in people with the disease.

AB - Therapeutics Development for Pantothenate Kinase-Associated NeurodegenerationLay summaryFor more than two decades, research has been underway to understand the biology of and develop treatments for PKAN, an ultra-rare genetic disease affecting children and adults. People with PKAN suffer from painful muscle spasms, stiffness, trouble controlling their movements, and blindness. The cause of PKAN is a mis-spelled gene that normally enables the body to use vitamin B5 to build other essential chemicals. Without a properly spelled gene, people with PKAN are unable to make those chemicals to preserve brain and eye health. Our work presented in this thesis has been focused on improving understanding of PKAN and the chemical pathways affected in this progressive disorder. We use that understanding to inspire new ideas to combat this chemical problem and potentially develop a treatment. Our work was provided hope for a way to bypass the PKAN problem, and we are currently focused on testing this idea in people with the disease.

M3 - Thesis fully internal (DIV)

PB - University of Groningen

CY - [Groningen]

ER -