Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

188 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. Marrone L, et al. Among authors: hubner ca. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. doi: 10.1093/hmg/ddac063. Hum Mol Genet. 2022. PMID: 35313342 Free PMC article.
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, Hübner CA. Beetz C, et al. Among authors: hubner ca. J Clin Invest. 2013 Oct;123(10):4273-82. doi: 10.1172/JCI65665. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051375 Free PMC article.
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings JC, Huebner AK, Symmank J, Jahic A, Ilina EI, Karle K, Schöls L, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Hübner CA. Khundadze M, et al. Among authors: hubner ca. PLoS Genet. 2013;9(12):e1003988. doi: 10.1371/journal.pgen.1003988. Epub 2013 Dec 19. PLoS Genet. 2013. PMID: 24367272 Free PMC article.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
Varga RE, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, Koch N, Hennings JC, Franzka P, Huebner AK, Kessels MM, Biskup C, Jentsch TJ, Qualmann B, Braulke T, Kurth I, Beetz C, Hübner CA. Varga RE, et al. Among authors: hubner ca. PLoS Genet. 2015 Aug 18;11(8):e1005454. doi: 10.1371/journal.pgen.1005454. eCollection 2015 Aug. PLoS Genet. 2015. PMID: 26284655 Free PMC article.
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. Jahic A, et al. Among authors: hubner ca. Orphanet J Rare Dis. 2015 Nov 16;10:147. doi: 10.1186/s13023-015-0359-x. Orphanet J Rare Dis. 2015. PMID: 26572744 Free PMC article.
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A… See abstract for full author list ➔ van Rheenen W, et al. Among authors: hubner ca. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.
Khundadze M, Ribaudo F, Hussain A, Rosentreter J, Nietzsche S, Thelen M, Winter D, Hoffmann B, Afzal MA, Hermann T, de Heus C, Piskor EM, Kosan C, Franzka P, von Kleist L, Stauber T, Klumperman J, Damme M, Proikas-Cezanne T, Hübner CA. Khundadze M, et al. Among authors: hubner ca. Neurobiol Dis. 2019 Jul;127:419-431. doi: 10.1016/j.nbd.2019.03.026. Epub 2019 Mar 28. Neurobiol Dis. 2019. PMID: 30930081
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Husain RA, et al. Among authors: hubner ca. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.
188 results