000000582 001__ 582
000000582 005__ 20260225150737.0
000000582 0247_ $$2DOI$$a10.6083/M4NS0RVZ
000000582 037__ $$aETD
000000582 245__ $$aThe molecular determinants of synaptic current kinetics at zebrafish neuromuscular junctions
000000582 260__ $$bOregon Health and Science University
000000582 269__ $$a2010
000000582 336__ $$aThesis
000000582 502__ $$bPh.D.
000000582 502__ $$gNeuroscience
000000582 520__ $$aThis study examined the fasting response of Native Alaskan children homozygous for the CPT1A c.1436C→T variant, which reduces hepatic fatty acid oxidation. Five children aged 3–5 completed an 18‑hour supervised fast with measurements of glucose, ketones, and free fatty acids. Two developed hypoketotic hypoglycemia requiring intervention. Compared with published controls, affected children showed markedly reduced ketone production and elevated FFA/KB ratios, indicating impaired hepatic ketogenesis despite normal fatty acid mobilization. Findings show that the c.1436C→T variant decreases fasting tolerance and increases risk for hypoketotic hypoglycemia, demonstrating it is not a benign genetic variant.
000000582 540__ $$fCC BY
000000582 542__ $$fIn copyright - single owner
000000582 650__ $$aZebrafish$$028076
000000582 650__ $$aSynaptic Transmission$$022820
000000582 650__ $$aNeuromuscular Junction$$022853
000000582 650__ $$aAcetylcholine$$014113
000000582 650__ $$aMuscle, Skeletal$$030835
000000582 650__ $$aReceptors, Cholinergic$$025186
000000582 650__ $$aReceptors, Nicotinic$$025212
000000582 6531_ $$aneural transmission
000000582 6531_ $$azebra danio
000000582 691__ $$aSchool of Medicine$$041369
000000582 692__ $$aVollum Institute$$041509
000000582 7001_ $$aMonegon, Rebecca$$uOregon Health and Science University$$041354
000000582 7201_ $$aMandel, Gail$$uOregon Health and Science University$$041354$$7Personal$$eAdvisor$$eMentor
000000582 8564_ $$95c8f0fdd-aa21-40b3-bc50-1d9dac62f0f1$$s5661749$$uhttps://digitalcollections.ohsu.edu/record/582/files/583_etd.pdf$$ePublic$$2cdd3002188e8bc61749c4e9f0f0c585e$$31
000000582 905__ $$a/rest/prod/hm/50/tr/73/hm50tr73g
000000582 909CO $$ooai:digitalcollections.ohsu.edu:582$$pstudent-work
000000582 956__ $$aGet Accessible Copy$$uhttps://ohsu.libwizard.com/f/requestaccessibledocument
000000582 980__ $$aTheses and Dissertations