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Special Issue: Translating Multiscale Research in Rare Disease. Edited by Monica Justice, Monkol Lek, Karen Liu and Kate Rauen

Summary: Biochemical studies and in silico protein stability analyses reveal molecular mechanisms underlying the neurodevelopmental disorder CAMRQ4 associated with missense mutations in ATP8A2 and genetic diseases linked to other P4-ATPase lipid flippases.

A MODEL FOR LIFE

THE PATIENT'S VOICE

PERSPECTIVE

Summary: Here, we summarise the issues surrounding access to gene therapy for rare diseases and explore potential solutions, and how they can be applied to improve access to these life-changing therapies.

EDITOR'S CHOICE

RESEARCH ARTICLES

Summary: In Caenorhabditis elegans, the endoplasmic reticulum protein LMBR-1 serves as a genetic suppressor of the specific seipin mutation associated with congenital generalized lipodystrophy.

Summary: Smad4, a commonly mutated gene in cholangiocarcinoma, restricts the cholangiocyte proliferative response to liver injury and oncogenic transformation via known/novel transcriptomic changes and genomic methylation patterns.

Summary: A mouse model carrying the pathogenic E122K mutation in Eef1a2 exhibits electrographic seizures and early motor abnormalities. Comparative phenotyping reveals a toxic gain-of-function or possible dominant-negative effect.

Editor's choice: Applying physiological mechanical stress to a human induced pluripotent stem cell model of Duchenne muscular dystrophy-related cardiomyopathy produces a biomarker signature similar to that seen in patients.

FIRST PERSON

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