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SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
Known as:
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE
, SPG28
National Institutes of Health
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Related topics
Related topics
6 relations
Abnormal pyramidal signs
Autosomal recessive inheritance
Lower limb muscle weakness
Scoliosis, unspecified
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Broader (1)
Paraplegia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase.
Jordon M Inloes
,
Hui Jing
,
B. Cravatt
Biochemistry
2018
Corpus ID: 52281243
Deleterious mutations in the serine hydrolase DDHD domain containing 1 (DDHD1) cause the SPG28 subtype of the neurological…
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2018
2018
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis
T. Maruyama
,
Takashi Baba
,
+15 authors
K. Tani
Cell Death and Disease
2018
Corpus ID: 256611992
DDHD2/KIAA0725p is a mammalian intracellular phospholipase A1 that exhibits phospholipase and lipase activities. Mutation of the…
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2016
2016
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast*
P. Yadav
,
R. Rajasekharan
Journal of Biological Chemistry
2016
Corpus ID: 7994187
The DDHD domain-containing proteins, which belong to the intracellular phospholipase A1 (iPLA1) family, have been predicted to be…
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2016
2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28
A. Mignarri
,
A. Rubegni
,
+9 authors
M. Dotti
Journal of Neurological Sciences
2016
Corpus ID: 13191385
2016
2016
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
Chujun Wu
,
D. Fan
Frontiers in Aging Neuroscience
2016
Corpus ID: 17747036
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is…
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2016
2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
S. Miura
,
Takuya Morikawa
,
+6 authors
H. Shibata
European Journal of Medical Genetics
2016
Corpus ID: 46478013
2016
2016
DDHD domain-containing lipases: Targets for the treatment of rare diseases.
Y. P. Kumar
,
R. Ram
2016
Corpus ID: 51896710
The DDHD domain-containing lipases belong to the intracellular phospholipase A1 (iPLA1) family. Phospholipases have been…
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2014
2014
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
R. Liguori
,
M. P. Giannoccaro
,
+5 authors
M. Bassi
Journal of Neurology
2014
Corpus ID: 2365894
Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype…
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Highly Cited
2009
Highly Cited
2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
C. Goizet
,
A. Boukhris
,
+23 authors
G. Stevanin
Brain : a journal of neurology
2009
Corpus ID: 13929264
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified…
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2007
2007
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
N. Elleuch
,
N. Bouslam
,
+16 authors
G. Stevanin
Neurogenetics
2007
Corpus ID: 25209385
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly…
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