Search details
1.
The effect of mutant GBA1 on accumulation and aggregation of α-synuclein.
Hum Mol Genet
; 28(11): 1768-1781, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-30615125
2.
NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
Biochem Biophys Res Commun
; 497(2): 605-611, 2018 03 04.
Article
in English
| MEDLINE | ID: mdl-29454964
3.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Am J Hum Genet
; 91(2): 337-42, 2012 Aug 10.
Article
in English
| MEDLINE | ID: mdl-22840363
4.
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Hum Mol Genet
; 19(19): 3771-81, 2010 Oct 01.
Article
in English
| MEDLINE | ID: mdl-20643691
5.
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Am J Hum Genet
; 85(2): 254-63, 2009 Aug.
Article
in English
| MEDLINE | ID: mdl-19631308
6.
EHD2 mediates trafficking from the plasma membrane by modulating Rac1 activity.
Biochem J
; 439(3): 433-42, 2011 Nov 01.
Article
in English
| MEDLINE | ID: mdl-21756249
7.
Non-keratinocyte SNAP29 influences epidermal differentiation and hair follicle formation in mice.
Exp Dermatol
; 25(8): 647-9, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27095090
8.
EHDS are serine phosphoproteins: EHD1 phosphorylation is enhanced by serum stimulation.
Cell Mol Biol Lett
; 13(4): 632-48, 2008.
Article
in English
| MEDLINE | ID: mdl-18661112
9.
Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS.
Orphanet J Rare Dis
; 9: 86, 2014 Jun 16.
Article
in English
| MEDLINE | ID: mdl-24935484
10.
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Nat Genet
; 45(10): 1244-1248, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23974871
11.
Loss of SNAP29 impairs endocytic recycling and cell motility.
PLoS One
; 5(3): e9759, 2010 Mar 18.
Article
in English
| MEDLINE | ID: mdl-20305790
12.
EHD1 regulates beta1 integrin endosomal transport: effects on focal adhesions, cell spreading and migration.
J Cell Sci
; 120(Pt 5): 802-14, 2007 Mar 01.
Article
in English
| MEDLINE | ID: mdl-17284518
13.
EHD1 regulates cholesterol homeostasis and lipid droplet storage.
Biochem Biophys Res Commun
; 357(3): 792-9, 2007 Jun 08.
Article
in English
| MEDLINE | ID: mdl-17451652
14.
Recycling to the plasma membrane is delayed in EHD1 knockout mice.
Traffic
; 7(1): 52-60, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16445686
15.
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
Am J Hum Genet
; 77(2): 242-51, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-15968592
16.
EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1.
Traffic
; 3(8): 575-89, 2002 Aug.
Article
in English
| MEDLINE | ID: mdl-12121420
17.
Genetic risk estimates for Duchenne dystrophy (DMD) in the absence of DNA deletions in the central region of the dystrophin gene
Rev. bras. genét
; 14(3): 827-33, Sept. 1991.
Article
in English
| LILACS | ID: lil-109123
18.
Becker-type muscular dystrophy in a mother of three boys affected by Duchenne muscular dystrophy: a follow-up study
Rev. bras. genét
; 10(2): 375-84, jun. 1987. ilus, tab
Article
in English
| LILACS | ID: lil-42191
19.
Frequency and pattern of DNA deletions in Duchenne (DMD) and Becker (BMD) patients: comparison of different racial background and isolated versus inherited cases
Rev. bras. genét
; 15(2): 459-67, June 1992. ilus
Article
in English
| LILACS | ID: lil-109135
20.
Serum creatine-kinase and pyruvate-kinase levels in females of different racial background at risk for Duchenne muscular dystrophy
Rev. bras. genét
; 11(3): 761-8, sept. 1988. tab
Article
in English
| LILACS | ID: lil-62622