Christina Freeman
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View article: Compound Heterozygous <i>MRPS14</i> Variants Associated With Leigh Syndrome
Compound Heterozygous <i>MRPS14</i> Variants Associated With Leigh Syndrome Open
MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14 ‐related disorder (also known as COXPD38) has been reported. We report an addi…
View article: Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia Open
Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. CLN6 encodes a resident-ER protein involved in trafficking ly…
View article: A neurodevelopmental disorder associated with an activating<i>de novo</i>missense variant in<i>ARF1</i>
A neurodevelopmental disorder associated with an activating<i>de novo</i>missense variant in<i>ARF1</i> Open
ADP-ribosylation factor 1 (ARF1) is a small GTPase that regulates membrane traffic at the Golgi apparatus and endosomes through recruitment of several coat proteins and lipid-modifying enzymes. Here, we report a pediatric patient with an A…
View article: Keyword Index
Keyword Index Open