A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9-Reference-Cited by-同舟云学术

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

Published:2017-02-07 Issue:3 Volume:173 Page:820-823
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marsh Ashley P. L.¹²,Yap Patrick³⁴,Tan Tiong³,Pope Kate¹,White Susan M.²³,Chong Belinda³,Mcgillivray George³,Boys Amber³,Stephenson Sarah E. M.¹²,Leventer Richard J.²⁵⁶,Stark Zornitza³,Lockhart Paul J.¹²

Affiliation:

1. Bruce Lefroy Centre For Genetic Health Research; Murdoch Childrens Research Institute; Royal Children's Hospital; Parkville Victoria Australia

2. Department of Paediatrics; University of Melbourne; Parkville Victoria Australia

3. Victorian Clinical Genetics Services; Murdoch Childrens Research Institute; Parkville Victoria Australia

4. Genetic Health Service New Zealand (Northern Hub); Auckland City Hospital; Auckland New Zealand

5. Neuroscience Research Group; Murdoch Childrens Research Institute; Parkville Victoria Australia

6. Department of Neurology; University of Melbourne; Royal Children's Hospital; Parkville Victoria Australia

Funder

National Health and Medical Research Council (NHMRC) Australia Project

Australian Postgraduate Award

Melbourne Childrens Clinician Scientist Fellowship

NHMRC Career Development Fellowship

Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC IRIISS

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder;Akizu;Cell,2013

2. Expression, purification, and inhibition of in vitro proteolysis of human AMPD2 (isoform L) recombinant enzymes;Haas;Protein Expr Purif,2003a

3. N-terminal extensions of the human AMPD2 polypeptide influence ATP regulation of isoform L;Haas;Biochem Biophys Res Commun,2003b

4. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss;Marsh;Neurol Genet,2015

5. Classification, diagnosis, and potential mechanisms in pontocerebellar hypoplasia;Namavar;Orphanet J Rare Dis,2011

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2. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia;neurogenetics;2022-11-29

3. Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature;Journal of Pediatric Genetics;2022-05-20

4. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2;American Journal of Medical Genetics Part A;2019-12-12

5. Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis;Quantitative Imaging in Medicine and Surgery;2019-12