Martin D Burkhalter
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Explore the profile of Martin D Burkhalter including associated specialties, affiliations and a list of published articles.
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31
Citations
618
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Recent Articles
1.
Buchert R, Burkhalter M, Huridou C, Sofan L, Roser T, Cremer K, et al.
Am J Hum Genet
. 2025 Jan;
112(2):374-393.
PMID: 39824192
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have...
2.
Burkhalter M, Stiff T, Maerz L, Casar Tena T, Wiese H, Gerhards J, et al.
Cell Death Dis
. 2024 Sep;
15(9):660.
PMID: 39251572
The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often, faulty centrosomes cause microcephaly, yet aberrant cilia may...
3.
Burkhalter M, Philipp M
Lab Anim
. 2024 Aug;
58(6):616-620.
PMID: 39157987
To carry out research with genetically modified animals, their genotype has to be assessed. A standard protocol to obtain required tissue samples from zebrafish is finclipping. However, some studies reported...
4.
Adametz F, Muller A, Stilgenbauer S, Burkhalter M, Philipp M
Adv Biol (Weinh)
. 2023 Aug;
7(12):e2300194.
PMID: 37537358
Cilia are best known and most studied for their manifold functions enabling proper embryonic development. Loss of cilia or dysfunction thereof results in a great variety of congenital malformations and...
5.
Sailer S, Burkhalter M, Philipp M
Adv Exp Med Biol
. 2023 Mar;
1422:121-142.
PMID: 36988879
Cilia are evolutionarily conserved organelles that can be found on virtually every cell. They appear as hair-like structures emanating from the cellular surface either as single or as bundles of...
6.
Gerhards J, Maerz L, Matthees E, Donow C, Moepps B, Premont R, et al.
J Am Soc Nephrol
. 2023 Feb;
34(4):590-606.
PMID: 36810260
Significance Statement: G protein-coupled receptor kinase 4 (GRK4) regulates renal sodium and water reabsorption. Although GRK4 variants with elevated kinase activity have been associated with salt-sensitive or essential hypertension, this...
7.
Tingler M, Philipp M, Burkhalter M
Biol Cell
. 2022 Feb;
114(6):143-159.
PMID: 35182397
Improper expansion of neural stem and progenitor cells during brain development manifests in primary microcephaly. This disease is characterized by a reduced head circumference, which correlates with a reduction in...
8.
Dutto I, Gerhards J, Herrera A, Souckova O, Skopova V, Smak J, et al.
Elife
. 2022 Feb;
11.
PMID: 35133277
Adenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients...
9.
Duong Phu M, Bross S, Burkhalter M, Philipp M
Pharmacol Ther
. 2021 Mar;
225:107841.
PMID: 33771583
Ciliopathies are a family of rather diverse conditions, which have been grouped based on the finding of altered or dysfunctional cilia, potentially motile, small cellular antennae extending from the surface...
10.
Sperka T, Song Z, Morita Y, Nalapareddy K, Guachalla L, Lechel A, et al.
Nat Cell Biol
. 2021 Jan;
23(3):292.
PMID: 33510409
No abstract available.