Ami M Perri
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Explore the profile of Ami M Perri including associated specialties, affiliations and a list of published articles.
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11
Citations
189
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Recent Articles
1.
Nitschke S, Sullivan M, Mitra S, Marchioni C, Lee J, Smith B, et al.
Brain
. 2022 Jan;
145(7):2361-2377.
PMID: 35084461
Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to...
2.
Nitschke S, Chown E, Zhao X, Gabrielian S, Petkovic S, Guisso D, et al.
J Biol Chem
. 2020 Dec;
296:100150.
PMID: 33277363
Malstructured glycogen accumulates over time in Lafora disease (LD) and precipitates into Lafora bodies (LBs), leading to neurodegeneration and intractable fatal epilepsy. Constitutive reduction of glycogen synthase-1 (GYS1) activity prevents...
3.
Chown E, Wang P, Zhao X, Crowder J, Strober J, Sullivan M, et al.
Ann Clin Transl Neurol
. 2020 Oct;
7(11):2186-2198.
PMID: 33034425
Objective: Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and...
4.
Israelian L, Nitschke S, Wang P, Zhao X, Perri A, Lee J, et al.
J Neurochem
. 2020 Sep;
157(6):1897-1910.
PMID: 32892347
Mammalian glycogen chain lengths are subject to complex regulation, including by seven proteins (protein phosphatase-1 regulatory subunit 3, PPP1R3A through PPP1R3G) that target protein phosphatase-1 (PP1) to glycogen to activate...
5.
Sullivan M, Nitschke S, Skwara E, Wang P, Zhao X, Pan X, et al.
Cell Rep
. 2019 May;
27(5):1334-1344.e6.
PMID: 31042462
Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood. Here, in...
6.
Nitschke F, Sullivan M, Wang P, Zhao X, Chown E, Perri A, et al.
EMBO Mol Med
. 2017 May;
9(7):906-917.
PMID: 28536304
Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and...
7.
Mucaki E, Caminsky N, Perri A, Lu R, Laederach A, Halvorsen M, et al.
BMC Med Genomics
. 2016 Apr;
9:19.
PMID: 27067391
Background: Sequencing of both healthy and disease singletons yields many novel and low frequency variants of uncertain significance (VUS). Complete gene and genome sequencing by next generation sequencing (NGS) significantly...
8.
Caminsky N, Mucaki E, Perri A, Lu R, Knoll J, Rogan P
Hum Mutat
. 2016 Feb;
37(7):640-52.
PMID: 26898890
BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer (HBOC) does not identify all pathogenic variants. Sequencing of 20 complete genes in HBOC patients with uninformative test results (N...
9.
de Oliveira Santos A, Perri A, Andrietta M, Rosa C, Lachance M
Antonie Van Leeuwenhoek
. 2015 Jul;
108(3):753-63.
PMID: 26215753
Fifty-two yeast isolates from flowers and associated nitidulid beetles of the Brazilian Atlantic Forest (Mata Atlântica) region were found to represent a new species in the large-spored Metschnikowia clade. The...
10.
Nesset K, Perri A, Mueller C
Epigenetics
. 2014 Mar;
9(6):851-9.
PMID: 24622770
Previous studies have found that expression of the Glucocorticoid Receptor (GR) is altered or reduced in various cancers, while the GR promoter has been shown to be methylated in gastric,...