Pontocerebellar Hypoplasia News and Research

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Cryo-EM reveals structure of key enzyme involved in protein production

Transfer RNAs (tRNAs) are among the most common types of RNA in a cell and are indispensable for protein production in all known organisms.

13 Jul 2023

New method helps identify rare genetic disease that affects brain development

Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe.

1 Jun 2021

UA scientists uncover biological processes leading to rare brain disorder in babies

Babies born with pontocerebellar hypoplasia type Ib often do not survive past one year. Born with an underdeveloped brain, infants struggle to move, feed and even breathe.

14 Dec 2018

Scientists get unprecedented view of brain development through high-resolution genomic map

Researchers at St. Jude Children's Research Hospital have created a massive database of the changes in gene activity of individual cells in the cerebellum during embryonic development and immediately after birth.

14 Sep 2018

Studies report new genetic disorder associated with degeneration of central/peripheral nervous systems

A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.

25 Apr 2014

Nutritional supplement may prevent neurodegenerative disease affecting children

Researchers at the University of California, San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children.

2 Aug 2013

New insights into role and importance of exosomes and their targeted gene transcripts

In the July 6 issue of Cell Stem Cell, researchers at the University of California, San Diego School of Medicine describe how human epidermal progenitor cells and stem cells control transcription factors to avoid premature differentiation, preserving their ability to produce new skin cells throughout life.

6 Jul 2012