Results 71 to 80 of about 3,638 (161)

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy? [PDF]

J Neuromuscul Dis
Durmuş H, Clemen CS, Uçar EÖ, Hofmann A, Schlötzer-Schrehardt U, Mertoğlu E, Ceylaner S, Dursun M, Sewry CA, Schröder R, Parman Y.   +10 more
europepmc   +1 more source

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the <i>PHEX</i> Gene. [PDF]

Hum Mutat
Li D, Peng W, Kang L, Geng J, Lu Y, Lu J.   +5 more
europepmc   +1 more source

Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia. [PDF]

Intern Med
Mitsutake A, Matsukawa T, Hino R, Fujino G, Sakai Y, Mitsui J, Ishiura H, K Iwata N, Tsuji S, Toda T.   +9 more
europepmc   +1 more source

Recognition of small Tim chaperones by the mitochondrial Yme1 protease. [PDF]

Protein Sci
Quispe-Carbajal M, Todd L, Glynn SE.
europepmc   +1 more source

Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia. [PDF]

Metab Brain Dis
Erhardt C, Spatz IT, Herrmann HJ, Kohl Z, Zopf Y, Gassner H, Winkler J, Regensburger M.   +7 more
europepmc   +1 more source

Functional Dissection of <i>Leishmania major</i> Membrane Components in Resistance to Cholesterol-Dependent Cytolysins. [PDF]

Toxins (Basel)
Haram CS, Salinas SJ, Wilson C, Sheikh SW, Zhang K, Keyel PA.   +5 more
europepmc   +1 more source

<i>Anisakis simplex</i>: The Exclusive Member of Anisakidae Family Infecting Fish Consumed by Humans in Chile Is a Mosaic of Allergens. [PDF]

Int J Mol Sci
San Francisco J, Ávalos A, Brito S, Montoya K, Zambrano S, Vivanco N, Arenas S, Aliaga C, Carter F, Pastén G, Gutiérrez B, Moon KM, de Almeida RF, Foster LJ, González J.   +14 more
europepmc   +1 more source

Reduced ZMPSTE24 expression leads to prelamin accumulation and development of steatosis in MASLD patients. [PDF]

Sci Rep
Schinderle JD, Wu A, Bochkis IM.
europepmc   +1 more source

[50] Thermolysin and other neutral metalloendopeptidases

, 1974
Y. Burstein, K.A. Walsh, M.K. Pangburn
core   +1 more source

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders. [PDF]

BMC Med
Estiar MA, Yu E, Varghaei P, Ross JP, Ashtiani S, Bayne AN, Coarelli G, Timmann D, Klockgether T, Beijer D, Mengel D, Coutelier M, Project MinE ALS Sequencing Consortium, Dion PA, Suchowersky O, Ewenczyk C, Goizet C, Stevanin G, Van Damme P, Al-Chalabi A, Zuchner S, Synofzik M, Veldink JH, Trempe JF, Durr A, Rouleau GA, Gan-Or Z.   +26 more
europepmc   +1 more source