Matthew N Wakeling
Overview
Explore the profile of Matthew N Wakeling including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
23
Citations
201
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Russ-Silsby J, Patel K, Laver T, Hawkes G, Johnson M, Wakeling M, et al.
Diabetes
. 2023 Aug;
72(11):1729-1734.
PMID: 37639628
Article Highlights:
12.
Fasham J, Huebner A, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, et al.
Brain
. 2023 Jul;
146(11):4547-4561.
PMID: 37459438
SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3- uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is expressed in principal neurons...
13.
Perera L, Hattersley A, Harding H, Wakeling M, Flanagan S, Mohsina I, et al.
EMBO Mol Med
. 2023 Jan;
15(3):e16491.
PMID: 36704923
Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy-onset...
14.
Wakeling M, Owens N, Hopkinson J, Johnson M, Houghton J, Dastamani A, et al.
Nat Genet
. 2022 Nov;
54(11):1615-1620.
PMID: 36333503
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function. This silencing is largely controlled by non-coding elements, and their...
15.
Khalaf-Nazzal R, Fasham J, Inskeep K, Blizzard L, Leslie J, Wakeling M, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2068-2079.
PMID: 36283405
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules....
16.
De Franco E, Wakeling M, Frew R, Russ-Silsby J, Peters C, Marks S, et al.
Clin Genet
. 2022 Jul;
102(5):457-458.
PMID: 35856135
We report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy-onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss-of-function variant. Our study further defines...
17.
Laver T, De Franco E, Johnson M, Patel K, Ellard S, Weedon M, et al.
PLoS Comput Biol
. 2022 Mar;
18(3):e1009940.
PMID: 35294448
Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and...
18.
Laver T, Wakeling M, Knox O, Colclough K, Wright C, Ellard S, et al.
Diabetes
. 2022 Feb;
71(5):1128-1136.
PMID: 35108381
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants...
19.
Salter C, Cai Y, Lo B, Helman G, Taylor H, McCartney A, et al.
Brain
. 2021 Aug;
144(12):3597-3610.
PMID: 34415310
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation...
20.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling M, Fantuzzi F, et al.
J Clin Invest
. 2020 Nov;
130(12):6338-6353.
PMID: 33164986
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes...