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Zebrafish model of Glycine Encephalopathy

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Figure	 I.1.1:	 The	 glycine	 cleavage	 system	 (GCS)	 reaction	 yields	 ammonia,	 CO2,	 and	 N	 5 -N	 10 -methylene	 tetrahydrofolate .	 The	 GCS	 is	 composed	 of	 4	 proteins:	 glycine	 decarboxylase	 (GLDC),	 tetrahydrofolate	 aminomethyltransferase	 (AMT),	 glycine	 cleavage	 system	 hydrogen	 carrier	 protein	 (GCSH),	 and	 lipoamide	 dehydrogenase	(DLD).	 	 The	symptoms	of	GE	are	commonly	first	observed	during	the	neonatal	period	and	are	 very	heterogeneous	among	the	patients	[6].	This	is	due	to	the	variety	of	mutations	affecting	 the	GCS	genes,	which	determine	whether	there	is	residual	GCS	enzymatic	activity.	Patients	 with	residual	GCS	activity	develop	a	more	attenuated	form	of	the	disease	[4].	Individuals	with	 attenuated	 GE	 often	 survive	 the	 neonatal	 period	 but	 show	 treatable	 epilepsy,	 spasticity,	 chorea,	 and	 variable	 developmental	 delay	 that	 can	 lead	 to	 intellectual	 disability	 [4,	 6].		 However,	in	severe	GE	the	neonates	present	severe	hypotonia,	myoclonic	jerks,	lethargy	and	 apnea	due	to	respiratory	depression,	which	often	causes	death	within	the	first	week	of	life.	 The	 neonates	 are	 sometimes	 born	 with	 brain	 malformations,	 such	 as	 hydrocephalus	 and
Figure	 IV.2:	 Gldc	 -/-	 larvae	 die	 prematurely	 and	 depict	 GE-reminiscent	 motor	 phenotypes.	 A.	 There	 is	 no
Figure	 IV.4:	 Transcriptomics	 analysis	 reveals	 differences	 in	 the	 expression	 of	 cell	 cycle,	 proliferation,	 and	 metabolism-related	genes	in	the	gldc	-/-	mutants.	A.	RNA	sequencing	analysis	of	7	dpf	larvae	reveals	that	408
Figure	V.1:	Wild-type	zebrafish	show	a	hypotonic	phenotype	when	treated	with	branched-chain	amino	acids	 and	glycine.	A.	Overnight	treatment	of	WT	embryos	with	leucine	alone	and	the	combination	of	leucine,	valine,

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